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A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype
Title A novel HNF4A pathogenic variant in a case of congenital hyperinsulinism with glycogenosis - like phenotype Author Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Co-authors Staník Juraj SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Brennerová Katarína Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Rosoľanková Monika Salingova Anna Bzduch Vladimir Klimeš Iwar SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Source document ESHG 2017 : European Human Genetics Conference. P. P06.14B. - : ESHG European Society of Human Genetics, 2017 ; European Human Genetics Conference ESHG 2017 Language eng - English Country DK - Denmark Document kind rozpis článkov z periodík (rzb) Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Year 2017 
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rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2017
Number of the records: 1