{"id":"https://openalex.org/W2944556952","doi":null,"title":"Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature","display_name":"Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature","publication_year":2018,"publication_date":"2018-08-28","ids":{"openalex":"https://openalex.org/W2944556952","mag":"2944556952"},"language":"en","primary_location":{"id":"mag:2944556952","doi":null,"is_oa":false,"landing_page_url":"https://abstracts.eurospe.org/hrp/0089/hrp0089p1-p177","pdf_url":null,"source":{"id":"https://openalex.org/S4306499590","display_name":"57th Annual ESPE","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"57th Annual ESPE","raw_type":null},"volume":null,"type":"article","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/A5052087020","display_name":"Tha\u00eds Kataoka Homma","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tha\u00eds Kataoka Homma","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045953761","display_name":"Bruna Lucheze Freire","orcid":"https://orcid.org/0000-0003-2395-7828","observed_orcids":["https://orcid.org/0000-0003-2395-7828"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bruna Lucheze Freire","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2395-7828","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013702572","display_name":"Rachel Ronjo","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Rachel Ronjo","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039731517","display_name":"Andrew Nahum Dauber","orcid":"https://orcid.org/0000-0003-4890-0262","observed_orcids":["https://orcid.org/0000-0003-4890-0262"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Andrew Dauber","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-4890-0262","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003259977","display_name":"Mariana F.A. Funari","orcid":"https://orcid.org/0000-0003-4316-4999","observed_orcids":["https://orcid.org/0000-0003-4316-4999"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mariana F.A. Funari","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-4316-4999","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001049421","display_name":"Ant\u00f4nio Carlos Ler\u00e1rio","orcid":"https://orcid.org/0000-0002-8829-9187","observed_orcids":["https://orcid.org/0000-0002-8829-9187"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ant\u00f4nio Carlos Ler\u00e1rio","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-8829-9187","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070035952","display_name":"Ivo J.P. Arnhold","orcid":"https://orcid.org/0000-0003-1739-1354","observed_orcids":["https://orcid.org/0000-0003-1739-1354"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ivo J.P. Arnhold","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1739-1354","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044362558","display_name":"Ana Pinheiro Machado Canton","orcid":"https://orcid.org/0000-0001-8662-5412","observed_orcids":["https://orcid.org/0000-0001-8662-5412"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ana Pinheiro Machado Canton","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-8662-5412","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112482004","display_name":"Sofia Mizuho Miura Sugayama","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sofia M. M. Sugayama","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062861144","display_name":"D\u00e9bora Romeo Bertola","orcid":"https://orcid.org/0000-0002-4701-6777","observed_orcids":["https://orcid.org/0000-0002-4701-6777"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D\u00e9bora Romeo Bertola","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-4701-6777","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100710488","display_name":"Chong Ae Kim","orcid":"https://orcid.org/0000-0002-1754-1300","observed_orcids":["https://orcid.org/0000-0002-1754-1300"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Chong Ae Kim","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-1754-1300","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029103087","display_name":"Alexsandra Christianne Malaquias","orcid":"https://orcid.org/0000-0003-1514-0244","observed_orcids":["https://orcid.org/0000-0003-1514-0244"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexsandra C. Malaquias","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-1514-0244","affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5056408960","display_name":"Alexander A.L. Jorge","orcid":"https://orcid.org/0000-0003-2567-7360","observed_orcids":["https://orcid.org/0000-0003-2567-7360"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Alexander A.L. Jorge","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-2567-7360","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":1,"citation_normalized_percentile":{"value":0.19885543,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"89","issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.38260000944137573,"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":0.38260000944137573,"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/T11310","display_name":"Connective tissue disorders research","score":0.2117999941110611,"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/T10748","display_name":"Growth Hormone and Insulin-like Growth Factors","score":0.20360000431537628,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/syndromic-short-stature","display_name":"syndromic short stature","score":0.878000020980835},{"id":"https://openalex.org/keywords/children","display_name":"children","score":0.4970000088214874},{"id":"https://openalex.org/keywords/genetic-research","display_name":"genetic research","score":0.7519999742507935},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.48100000619888306},{"id":"https://openalex.org/keywords/growth-disorders","display_name":"growth disorders","score":0.3440000116825104}],"concepts":[{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.6378980278968811},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5642330646514893},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4303939938545227},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.33376720547676086},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.18313178420066833}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2944556952","doi":null,"is_oa":false,"landing_page_url":"https://abstracts.eurospe.org/hrp/0089/hrp0089p1-p177","pdf_url":null,"source":{"id":"https://openalex.org/S4306499590","display_name":"57th Annual ESPE","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"57th Annual ESPE","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3199396520","https://openalex.org/W3047037447","https://openalex.org/W3107666276","https://openalex.org/W2939150840","https://openalex.org/W3028817319","https://openalex.org/W2903195533","https://openalex.org/W2510061159","https://openalex.org/W2512335265","https://openalex.org/W2942378337","https://openalex.org/W2112924771"],"abstract_inverted_index":null,"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2026-09-25T08:18:29.962427","created_date":"2019-05-16T00:00:00"}
