{"id":"https://openalex.org/W2184433874","doi":null,"title":"For peer review only CASE -FATALITY RATE IN 22Q11 MICRODELETION SYNDROME PATIENTS","display_name":"For peer review only CASE -FATALITY RATE IN 22Q11 MICRODELETION SYNDROME PATIENTS","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2184433874","mag":"2184433874"},"language":"en","primary_location":{"id":"mag:2184433874","doi":null,"is_oa":false,"landing_page_url":"https://bmjopen.bmj.com/content/4/11/e005041.draft-revisions.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/A5050039587","display_name":"Gabriela M. Repetto","orcid":"https://orcid.org/0000-0003-0120-5684","observed_orcids":["https://orcid.org/0000-0003-0120-5684"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Gabriela M. Repetto","raw_affiliation_strings":[],"raw_orcid":"https://orcid.org/0000-0003-0120-5684","affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108101080","display_name":"Mar\u00eda Luisa","orcid":"https://orcid.org/0000-0001-7949-5787","observed_orcids":["https://orcid.org/0000-0001-7949-5787"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Mar\u00eda Luisa","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037090469","display_name":"Luis Calvo Mackenna","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Luis Calvo Mackenna","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5057452806","display_name":"Fundaci\u00f3n Alfredo Gantz Mann","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Fundaci\u00f3n Alfredo Gantz Mann","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":0.0,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9077000021934509,"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":0.9077000021934509,"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.02070000022649765,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.010599999688565731,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.9580000042915344},{"id":"https://openalex.org/keywords/case-fatality-rate","display_name":"case fatality rate","score":0.753000020980835},{"id":"https://openalex.org/keywords/mortality","display_name":"mortality","score":0.37299999594688416},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.4970000088214874}],"concepts":[{"id":"https://openalex.org/C2776984250","wikidata":"https://www.wikidata.org/wiki/Q10329580","display_name":"Microdeletion syndrome","level":4,"score":0.7463419437408447},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5076247453689575},{"id":"https://openalex.org/C187316915","wikidata":"https://www.wikidata.org/wiki/Q92307203","display_name":"Case fatality rate","level":3,"score":0.43841347098350525},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1864551603794098},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.1516275703907013},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.13521745800971985},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.13312208652496338},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09304296970367432},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:2184433874","doi":null,"is_oa":false,"landing_page_url":"https://bmjopen.bmj.com/content/4/11/e005041.draft-revisions.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":0.9940000176429749}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W1534667739","https://openalex.org/W1966328361","https://openalex.org/W1977515230","https://openalex.org/W2036665531","https://openalex.org/W2051148043","https://openalex.org/W2052467640","https://openalex.org/W2059335010","https://openalex.org/W2065527025","https://openalex.org/W2068398512","https://openalex.org/W2099235089","https://openalex.org/W2102658694","https://openalex.org/W2108677362","https://openalex.org/W2143898036","https://openalex.org/W2486171312"],"related_works":["https://openalex.org/W7100235650","https://openalex.org/W2004087850","https://openalex.org/W4246707810","https://openalex.org/W2345794332","https://openalex.org/W4300535681","https://openalex.org/W2045786607","https://openalex.org/W2082590458","https://openalex.org/W7027526517","https://openalex.org/W4311069869","https://openalex.org/W1989263555"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2016-06-24T00:00:00"}