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A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.
Dubey, Abhishek Anil; Krygier, Magdalena; Szulc, Natalia A; Rutkowska, Karolina; Kosinska, Joanna; Pollak, Agnieszka; Rydzanicz, Malgorzata; Kmiec, Tomasz; Mazurkiewicz-Beldzinska, Maria; Pokrzywa, Wojciech; Ploski, Rafal.
Afiliação
  • Dubey AA; Laboratory of Protein Metabolism, International Institute of Molecular and Cell Biology in Warsaw, 02-109 Warsaw, Poland.
  • Krygier M; Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.
  • Szulc NA; Laboratory of Protein Metabolism, International Institute of Molecular and Cell Biology in Warsaw, 02-109 Warsaw, Poland.
  • Rutkowska K; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Pollak A; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
  • Kmiec T; Department of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
  • Mazurkiewicz-Beldzinska M; Department of Developmental Neurology, Medical University of Gdansk, 80-952 Gdansk, Poland.
  • Pokrzywa W; Laboratory of Protein Metabolism, International Institute of Molecular and Cell Biology in Warsaw, 02-109 Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Hum Mol Genet ; 32(7): 1152-1161, 2023 03 20.
Article em En | MEDLINE | ID: mdl-36336956
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Complexo de Endopeptidases do Proteassoma / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Child / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Complexo de Endopeptidases do Proteassoma / Transtornos do Neurodesenvolvimento Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Animals / Child / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Polônia