{"id":"https://openalex.org/W13849122","doi":"https://doi.org/10.1891/0730-0832.21.3.7","title":"Cornelia de Lange Syndrome: A Case Study","display_name":"Cornelia de Lange Syndrome: A Case Study","publication_year":2002,"publication_date":"2002-04-01","ids":{"openalex":"https://openalex.org/W13849122","doi":"https://doi.org/10.1891/0730-0832.21.3.7","mag":"13849122","pmid":"https://pubmed.ncbi.nlm.nih.gov/12943206"},"language":"en","primary_location":{"id":"doi:10.1891/0730-0832.21.3.7","doi":"https://doi.org/10.1891/0730-0832.21.3.7","is_oa":false,"landing_page_url":"https://doi.org/10.1891/0730-0832.21.3.7","pdf_url":null,"source":{"id":"https://openalex.org/S61648352","display_name":"Neonatal Network The Journal of Neonatal Nursing","issn_l":"0730-0832","issn":["0730-0832","1539-2880"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","medline","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neonatal Network","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"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/A5028942909","display_name":"Melanie Melanie","orcid":"https://orcid.org/0000-0003-0448-7795","observed_orcids":["https://orcid.org/0000-0003-0448-7795"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Melanie Melanie","raw_affiliation_strings":["Overland Park Regional Medical Center, NICU, Kansas 66215, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Overland Park Regional Medical Center, NICU, Kansas 66215, USA","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5028942909"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.00151264,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"21","issue":"3","first_page":"7","last_page":"13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9136000275611877,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9136000275611877,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.040300000458955765,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/T11310","display_name":"Connective tissue disorders research","score":0.009999999776482582,"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/cornelia-de-lange-syndrome","display_name":"Cornelia de Lange syndrome","score":1.0},{"id":"https://openalex.org/keywords/growth-retardation","display_name":"growth retardation","score":0.9240000247955322},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.7300000190734863},{"id":"https://openalex.org/keywords/facial-dysmorphism","display_name":"facial dysmorphism","score":0.7900000214576721},{"id":"https://openalex.org/keywords/misdiagnosis","display_name":"misdiagnosis","score":0.9700000286102295},{"id":"https://openalex.org/keywords/multidisciplinary-management","display_name":"multidisciplinary management","score":0.8059999942779541},{"id":"https://openalex.org/keywords/family-support","display_name":"family support","score":0.8550000190734863},{"id":"https://openalex.org/keywords/neonatal-care","display_name":"neonatal care","score":0.5320000052452087}],"concepts":[{"id":"https://openalex.org/C2778107874","wikidata":"https://www.wikidata.org/wiki/Q1133289","display_name":"Cornelia de Lange Syndrome","level":2,"score":0.9944069981575012},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3795892596244812},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.34101372957229614},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3152775168418884}],"mesh":[{"descriptor_ui":"D002893","descriptor_name":"Chromosomes, Human, Pair 3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003635","descriptor_name":"De Lange Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D003635","descriptor_name":"De Lange Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D003635","descriptor_name":"De Lange Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003635","descriptor_name":"De Lange Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1891/0730-0832.21.3.7","doi":"https://doi.org/10.1891/0730-0832.21.3.7","is_oa":false,"landing_page_url":"https://doi.org/10.1891/0730-0832.21.3.7","pdf_url":null,"source":{"id":"https://openalex.org/S61648352","display_name":"Neonatal Network The Journal of Neonatal Nursing","issn_l":"0730-0832","issn":["0730-0832","1539-2880"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","medline","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neonatal Network","raw_type":"journal-article"},{"id":"pmid:12943206","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12943206","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":"Neonatal network : NN","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8371999859809875,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W1519918067","https://openalex.org/W1965105026","https://openalex.org/W1965467901","https://openalex.org/W1972442816","https://openalex.org/W1980512510","https://openalex.org/W2001720179","https://openalex.org/W2003165091","https://openalex.org/W2016782832","https://openalex.org/W2019087862","https://openalex.org/W2021224832","https://openalex.org/W2024264694","https://openalex.org/W2041191043","https://openalex.org/W2044997377","https://openalex.org/W2059267808","https://openalex.org/W2065418419","https://openalex.org/W2081409091","https://openalex.org/W2089104524","https://openalex.org/W2090445661","https://openalex.org/W2104949174","https://openalex.org/W2120277397","https://openalex.org/W2144508613","https://openalex.org/W2155807526","https://openalex.org/W2162154169","https://openalex.org/W2166403018","https://openalex.org/W4205287483"],"related_works":["https://openalex.org/W2126468607","https://openalex.org/W163507232","https://openalex.org/W2891334902","https://openalex.org/W7100944432","https://openalex.org/W2145717437","https://openalex.org/W6921578501","https://openalex.org/W2381371461","https://openalex.org/W4285743861","https://openalex.org/W4281743675","https://openalex.org/W6990190017"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
