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A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.
Maj, Mary; Taylor, Christie L; Landau, Kevin; Toriello, Helga V; Li, Dong; Bhoj, Elizabeth J; Hakonarson, Hakon; Nelson, Beverly; Gluschitz, Sarah; Walker, Ruth H; Sobering, Andrew K.
Afiliação
  • Maj M; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
  • Taylor CL; Augusta University/University of Georgia Medical Partnership Campus of the Medical College of Georgia, Athens, Georgia, USA.
  • Landau K; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
  • Toriello HV; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Hakonarson H; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Nelson B; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Gluschitz S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Walker RH; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Sobering AK; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.
Mol Genet Genomic Med ; 11(1): e2064, 2023 01.
Article em En | MEDLINE | ID: mdl-36148638
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada Limite: Adolescent / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Granada País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Generalizada Limite: Adolescent / Female / Humans Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Granada País de publicação: Estados Unidos