{"id":"https://openalex.org/W2005171752","doi":"https://doi.org/10.1016/j.ejmg.2013.07.008","title":"Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome","display_name":"Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome","publication_year":2013,"publication_date":"2013-08-09","ids":{"openalex":"https://openalex.org/W2005171752","doi":"https://doi.org/10.1016/j.ejmg.2013.07.008","mag":"2005171752","pmid":"https://pubmed.ncbi.nlm.nih.gov/23933507"},"language":"en","primary_location":{"id":"doi:10.1016/j.ejmg.2013.07.008","doi":"https://doi.org/10.1016/j.ejmg.2013.07.008","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2013.07.008","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://repository.ubn.ru.nl//bitstream/handle/2066/144225/144225.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017801853","display_name":"Kim Freriks","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":true,"raw_author_name":"Kim Freriks","raw_affiliation_strings":["Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. Electronic address: k.freriks@aig.umcn.nl","Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. Electronic address: k.freriks@aig.umcn.nl","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048446979","display_name":"Henri J L M Timmers","orcid":"https://orcid.org/0000-0002-1208-5748","observed_orcids":["https://orcid.org/0000-0002-1208-5748"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Henri J.L.M. Timmers","raw_affiliation_strings":["Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083660817","display_name":"Romana Teodora Netea-Maier","orcid":"https://orcid.org/0000-0002-9603-0460","observed_orcids":["https://orcid.org/0000-0002-9603-0460"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Romana T. Netea-Maier","raw_affiliation_strings":["Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066923746","display_name":"Catharina C M Beerendonk","orcid":"https://orcid.org/0000-0003-3179-3763","observed_orcids":["https://orcid.org/0000-0003-3179-3763"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Catharina C.M. Beerendonk","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Department of Obstetrics & Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Department of Obstetrics & Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111648400","display_name":"Barto J. Otten","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Barto J. Otten","raw_affiliation_strings":["Department of Pediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5137969746","display_name":"Jani\u00eblle A. E. M. van der Velden","orcid":"https://orcid.org/0000-0001-9421-9289","observed_orcids":["https://orcid.org/0000-0001-9421-9289"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Jani\u00eblle A.E.M. van Alfen-van der Velden","raw_affiliation_strings":["Department of Pediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078298993","display_name":"Maaike A. F. Traas","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Maaike A.F. Traas","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Department of Obstetrics & Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Department of Obstetrics & Gynecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070894745","display_name":"Hanneke Mieloo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Hanneke Mieloo","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089008375","display_name":"Guillaume W. H. J. F. van de Zande","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Guillaume W.H.J.F.L. van de Zande","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105919968","display_name":"Lies H. Hoefsloot","orcid":"https://orcid.org/0009-0000-3444-9955","observed_orcids":["https://orcid.org/0009-0000-3444-9955"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Lies H. Hoefsloot","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108227127","display_name":"Ad R. Hermus","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ad R.M.M. Hermus","raw_affiliation_strings":["Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Division of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5088656119","display_name":"Dominique Smeets","orcid":"https://orcid.org/0000-0003-1028-998X","observed_orcids":["https://orcid.org/0000-0003-1028-998X"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Dominique F.C.M. Smeets","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Dept. of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5017801853"],"corresponding_institution_ids":["https://openalex.org/I2802934949"],"apc_list":{"value":3330,"currency":"USD","value_usd":3330},"apc_paid":null,"fwci":3.3087,"has_fulltext":true,"cited_by_count":59,"citation_normalized_percentile":{"value":0.92009506,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"56","issue":"9","first_page":"497","last_page":"501"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":1.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/turner-syndrome","display_name":"Turner syndrome","score":1.0},{"id":"https://openalex.org/keywords/x-chromosome-mosaicism","display_name":"X chromosome mosaicism","score":0.8849999904632568},{"id":"https://openalex.org/keywords/tissue-specific-mosaicism","display_name":"tissue-specific mosaicism","score":0.7020000219345093},{"id":"https://openalex.org/keywords/monosomy-x","display_name":"monosomy X","score":0.6209999918937683},{"id":"https://openalex.org/keywords/ovarian-tissue","display_name":"ovarian tissue","score":0.5979999899864197}],"concepts":[{"id":"https://openalex.org/C2779272188","wikidata":"https://www.wikidata.org/wiki/Q5581320","display_name":"Gonadoblastoma","level":5,"score":0.8841315507888794},{"id":"https://openalex.org/C2779142324","wikidata":"https://www.wikidata.org/wiki/Q3321288","display_name":"Monosomy","level":5,"score":0.8123067617416382},{"id":"https://openalex.org/C167871757","wikidata":"https://www.wikidata.org/wiki/Q4982391","display_name":"Buccal swab","level":2,"score":0.8020937442779541},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.7386767864227295},{"id":"https://openalex.org/C2779683239","wikidata":"https://www.wikidata.org/wiki/Q202849","display_name":"Turner syndrome","level":2,"score":0.6956266164779663},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6254016757011414},{"id":"https://openalex.org/C2780246931","wikidata":"https://www.wikidata.org/wiki/Q202771","display_name":"Y chromosome","level":3,"score":0.5949351191520691},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.5479269027709961},{"id":"https://openalex.org/C130773972","wikidata":"https://www.wikidata.org/wiki/Q904181","display_name":"Marker chromosome","level":5,"score":0.484928160905838},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.4663469195365906},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.45807313919067383},{"id":"https://openalex.org/C15151550","wikidata":"https://www.wikidata.org/wiki/Q5262619","display_name":"Derivative chromosome","level":5,"score":0.4436178505420685},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.41461294889450073},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.40768134593963623},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.19986394047737122},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.1155862808227539},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08843532204627991}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008214","descriptor_name":"Lymphocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009061","descriptor_name":"Mouth Mucosa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010051","descriptor_name":"Ovarian Neoplasms","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018238","descriptor_name":"Gonadoblastoma","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D018238","descriptor_name":"Gonadoblastoma","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D041322","descriptor_name":"Chromosomes, Human, Y","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D060888","descriptor_name":"Real-Time Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1016/j.ejmg.2013.07.008","doi":"https://doi.org/10.1016/j.ejmg.2013.07.008","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.ejmg.2013.07.008","pdf_url":null,"source":{"id":"https://openalex.org/S160362754","display_name":"European Journal of Medical Genetics","issn_l":"1769-7212","issn":["1769-7212","1878-0849"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:23933507","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/23933507","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European journal of medical genetics","raw_type":"Journal Article"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/144225","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2066/144225","pdf_url":"https://repository.ubn.ru.nl//bitstream/handle/2066/144225/144225.pdf","source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/144225","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/144225","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"European Journal of Medical Genetics, 56, 497 - 501","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"pmh:oai:repository.ubn.ru.nl:2066/144225","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2066/144225","pdf_url":"https://repository.ubn.ru.nl//bitstream/handle/2066/144225/144225.pdf","source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Life below water","score":0.6700000166893005,"id":"https://metadata.un.org/sdg/14"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2005171752.pdf","grobid_xml":"https://content.openalex.org/works/W2005171752.grobid-xml"},"referenced_works_count":28,"referenced_works":["https://openalex.org/W1525233566","https://openalex.org/W1757980159","https://openalex.org/W2008722040","https://openalex.org/W2013881437","https://openalex.org/W2015479973","https://openalex.org/W2015690964","https://openalex.org/W2031255132","https://openalex.org/W2042825711","https://openalex.org/W2051935986","https://openalex.org/W2052731128","https://openalex.org/W2056543389","https://openalex.org/W2064588376","https://openalex.org/W2069277865","https://openalex.org/W2072679514","https://openalex.org/W2077730426","https://openalex.org/W2079202252","https://openalex.org/W2085257614","https://openalex.org/W2090755532","https://openalex.org/W2106535243","https://openalex.org/W2140563360","https://openalex.org/W2158822469","https://openalex.org/W2161052532","https://openalex.org/W2162829213","https://openalex.org/W2166383227","https://openalex.org/W2168216303","https://openalex.org/W3021845969","https://openalex.org/W4205225963","https://openalex.org/W6631325009"],"related_works":["https://openalex.org/W2078846051","https://openalex.org/W3212370964","https://openalex.org/W3217154715","https://openalex.org/W2013881437","https://openalex.org/W4387142411","https://openalex.org/W4390431779","https://openalex.org/W6889920067","https://openalex.org/W2135960894","https://openalex.org/W3107943626","https://openalex.org/W2124280972"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":7},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":5},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
