{"id":"https://openalex.org/W2566967337","doi":null,"title":"Table 2. [Proposed Phenotypic Scoring System for Kabuki Syndrome].","display_name":"Table 2. [Proposed Phenotypic Scoring System for Kabuki Syndrome].","publication_year":2013,"publication_date":"2013-05-16","ids":{"openalex":"https://openalex.org/W2566967337","mag":"2566967337"},"language":"en","primary_location":{"id":"mag:2566967337","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK62111/table/kabuki.T.proposed_phenotypic_scoring_sys/","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","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/A5074893779","display_name":"Margaret P Adam","orcid":"https://orcid.org/0000-0001-9817-5121","observed_orcids":["https://orcid.org/0000-0001-9817-5121","https://orcid.org/0000-0002-9128-2239"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Margaret P Adam","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0001-9817-5121","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018612523","display_name":"Louanne Hudgins","orcid":"https://orcid.org/0000-0002-7639-411X","observed_orcids":["https://orcid.org/0000-0002-7639-411X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Louanne Hudgins","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5051173402","display_name":"Mark Hannibal","orcid":"https://orcid.org/0000-0002-9077-3837","observed_orcids":["https://orcid.org/0000-0002-9077-3837"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mark C. Hannibal","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0002-9077-3837","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":0.2676472,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.9506999850273132,"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":0.9506999850273132,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.013000000268220901,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.006599999964237213,"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/kabuki-syndrome","display_name":"Kabuki syndrome","score":0.9940000176429749},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7900000214576721},{"id":"https://openalex.org/keywords/genetic-syndromes","display_name":"genetic syndromes","score":0.4000000059604645}],"concepts":[{"id":"https://openalex.org/C45235069","wikidata":"https://www.wikidata.org/wiki/Q278425","display_name":"Table (database)","level":2,"score":0.6050298810005188},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.45648854970932007},{"id":"https://openalex.org/C2984538763","wikidata":"https://www.wikidata.org/wiki/Q2260590","display_name":"Scoring system","level":2,"score":0.43270963430404663},{"id":"https://openalex.org/C2776284039","wikidata":"https://www.wikidata.org/wiki/Q199701","display_name":"Kabuki","level":2,"score":0.42077183723449707},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.33079326152801514},{"id":"https://openalex.org/C124101348","wikidata":"https://www.wikidata.org/wiki/Q172491","display_name":"Data mining","level":1,"score":0.14722150564193726},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.10321828722953796},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.06797021627426147},{"id":"https://openalex.org/C153349607","wikidata":"https://www.wikidata.org/wiki/Q36649","display_name":"Visual arts","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2566967337","doi":null,"is_oa":false,"landing_page_url":"https://www.ncbi.nlm.nih.gov/books/NBK62111/table/kabuki.T.proposed_phenotypic_scoring_sys/","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":[],"sustainable_development_goals_aurora":[],"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/W2919172846","https://openalex.org/W3021503688","https://openalex.org/W7207120232","https://openalex.org/W2235412398","https://openalex.org/W1930152646","https://openalex.org/W7038948315","https://openalex.org/W7206124687","https://openalex.org/W4251427033","https://openalex.org/W2275509381","https://openalex.org/W3199874035"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-09-24T07:57:37.273135","created_date":"2017-01-06T00:00:00"}