{"id":"https://openalex.org/W2292829406","doi":null,"title":"Genetic and molecular study of Waardenburg syndrome","display_name":"Genetic and molecular study of Waardenburg syndrome","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2292829406","mag":"2292829406"},"language":"nl","primary_location":{"id":"mag:2292829406","doi":null,"is_oa":false,"landing_page_url":"https://www.teses.usp.br/teses/disponiveis/41/41131/tde-01092014-090159/publico/magnolia_simplificada.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"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/A5109325616","display_name":"S\u00e3o Paulo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"S\u00e3o Paulo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5109325616"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.7914999723434448,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.7914999723434448,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.0989999994635582,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.007799999788403511,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/waardenburg-syndrome","display_name":"Waardenburg syndrome","score":0.9940000176429749},{"id":"https://openalex.org/keywords/genetic-basis","display_name":"genetic basis","score":0.6890000104904175},{"id":"https://openalex.org/keywords/molecular-genetics","display_name":"molecular genetics","score":0.9580000042915344},{"id":"https://openalex.org/keywords/hereditary-hearing-loss","display_name":"hereditary hearing loss","score":0.6800000071525574},{"id":"https://openalex.org/keywords/pigmentary-disorders","display_name":"skin pigmentation disorders","score":0.7960000038146973}],"concepts":[{"id":"https://openalex.org/C2777259899","wikidata":"https://www.wikidata.org/wiki/Q1151801","display_name":"Waardenburg syndrome","level":4,"score":0.7208156585693359},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3812861740589142},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23996418714523315},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18922170996665955},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.07831192016601562}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2292829406","doi":null,"is_oa":false,"landing_page_url":"https://www.teses.usp.br/teses/disponiveis/41/41131/tde-01092014-090159/publico/magnolia_simplificada.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":48,"referenced_works":["https://openalex.org/W1528548097","https://openalex.org/W1556811671","https://openalex.org/W1576536426","https://openalex.org/W1657719429","https://openalex.org/W1958675029","https://openalex.org/W1963484335","https://openalex.org/W1966079432","https://openalex.org/W1969080606","https://openalex.org/W1975066506","https://openalex.org/W1980740976","https://openalex.org/W1985903849","https://openalex.org/W1995968204","https://openalex.org/W1997641278","https://openalex.org/W2011686540","https://openalex.org/W2033509429","https://openalex.org/W2037104940","https://openalex.org/W2038510087","https://openalex.org/W2043491104","https://openalex.org/W2065337855","https://openalex.org/W2074172100","https://openalex.org/W2076357933","https://openalex.org/W2080930253","https://openalex.org/W2081462173","https://openalex.org/W2086538740","https://openalex.org/W2087447340","https://openalex.org/W2093722449","https://openalex.org/W2097062114","https://openalex.org/W2104570606","https://openalex.org/W2106966722","https://openalex.org/W2116306988","https://openalex.org/W2122545078","https://openalex.org/W2128896436","https://openalex.org/W2130407365","https://openalex.org/W2131587128","https://openalex.org/W2133154334","https://openalex.org/W2135142758","https://openalex.org/W2137396992","https://openalex.org/W2146973661","https://openalex.org/W2160995259","https://openalex.org/W2162212014","https://openalex.org/W2162497387","https://openalex.org/W2167522637","https://openalex.org/W2167852161","https://openalex.org/W2169567789","https://openalex.org/W2188518125","https://openalex.org/W2228651348","https://openalex.org/W2916083703","https://openalex.org/W7099666281"],"related_works":["https://openalex.org/W2490908349","https://openalex.org/W2622389788","https://openalex.org/W3127424912","https://openalex.org/W2284627292","https://openalex.org/W1554661079","https://openalex.org/W3135612722","https://openalex.org/W2435552669","https://openalex.org/W2395475863","https://openalex.org/W2414400862","https://openalex.org/W2418741745"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}