{"id":"https://openalex.org/W2498715083","doi":null,"title":"A chromosomal rearrangement causing velopharyngeal and developmental delay.","display_name":"A chromosomal rearrangement causing velopharyngeal and developmental delay.","publication_year":2000,"publication_date":"2000-10-01","ids":{"openalex":"https://openalex.org/W2498715083","mag":"2498715083"},"language":"en","primary_location":{"id":"pmh:rug:oai:pure.rug.nl:publications/8ae75f95-0d16-4b35-b414-484abadf637c","doi":null,"is_oa":false,"landing_page_url":"https://www.rug.nl/research/portal/en/publications/a-chromosomal-rearrangement-causing-velopharyngeal-and-developmental-delay(8ae75f95-0d16-4b35-b414-484abadf637c).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 67(4), 145 - 145","raw_type":"info:eu-repo/semantics/article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5086490548","display_name":"Wilhelmina S. Kerstjens\u2010Frederikse","orcid":"https://orcid.org/0000-0003-2528-2203","observed_orcids":["https://orcid.org/0000-0003-2528-2203"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"WS Kerstjens\u2010Frederikse","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111643727","display_name":"Beike K. Leegte","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Beike Leegte","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088408383","display_name":"JC Oosterwijk","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"JC Oosterwijk","raw_affiliation_strings":["Damage and Repair in Cancer Development and Cancer Treatment (DARE)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Damage and Repair in Cancer Development and Cancer Treatment (DARE)","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"E. Vogel","orcid":"https://orcid.org/0009-0002-0324-8098","observed_orcids":["https://orcid.org/0009-0002-0324-8098"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. Vogel","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0009-0002-0324-8098","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5110206955","display_name":"AJ Van Essen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"AJ Van Essen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.3239976,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"67","issue":"4","first_page":"145","last_page":"145"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8984000086784363,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8984000086784363,"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/T11374","display_name":"Cleft Lip and Palate Research","score":0.06530000269412994,"subfield":{"id":"https://openalex.org/subfields/3504","display_name":"Oral Surgery"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.004100000020116568,"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/chromosomal-rearrangements","display_name":"chromosomal rearrangements","score":0.9879999756813049},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.9760000109672546},{"id":"https://openalex.org/keywords/cleft-palate","display_name":"cleft palate","score":0.5619999766349792},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.421999990940094}],"concepts":[{"id":"https://openalex.org/C86546924","wikidata":"https://www.wikidata.org/wiki/Q3454460","display_name":"Chromosomal rearrangement","level":5,"score":0.5765892267227173},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5205118060112},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.45148900151252747},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2521821856498718},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.2329995334148407},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09759050607681274}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:rug:oai:pure.rug.nl:publications/8ae75f95-0d16-4b35-b414-484abadf637c","doi":null,"is_oa":false,"landing_page_url":"https://www.rug.nl/research/portal/en/publications/a-chromosomal-rearrangement-causing-velopharyngeal-and-developmental-delay(8ae75f95-0d16-4b35-b414-484abadf637c).html","pdf_url":null,"source":{"id":"https://openalex.org/S4306400420","display_name":"University of Groningen research database (University of Groningen / Centre for Information Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I169381384","host_organization_name":"University of Groningen","host_organization_lineage":["https://openalex.org/I169381384"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Human Genetics, 67(4), 145 - 145","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2498715083","doi":null,"is_oa":false,"landing_page_url":"https://www.rug.nl/research/portal/en/publications/a-chromosomal-rearrangement-causing-velopharyngeal-and-developmental-delay(8ae75f95-0d16-4b35-b414-484abadf637c).html","pdf_url":null,"source":{"id":"https://openalex.org/S134425043","display_name":"The American Journal of Human Genetics","issn_l":"0002-9297","issn":["0002-9297","1537-6605"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-200","russia-white-list-1","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"The American Journal of Human Genetics","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W6981931594","https://openalex.org/W2770632210","https://openalex.org/W2900487187","https://openalex.org/W2777038609","https://openalex.org/W2520082288","https://openalex.org/W2592991053","https://openalex.org/W926927142","https://openalex.org/W7148223366","https://openalex.org/W2106267075","https://openalex.org/W7073680508"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-12T09:40:04.860316","created_date":"2016-08-23T00:00:00"}