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Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.
Pesz, Karolina; Pienkowski, Victor Murcia; Pollak, Agnieszka; Gasperowicz, Piotr; Sykulski, Maciej; Kosinska, Joanna; Kiszko, Magdalena; Krzykwa, Boguslawa; Bartnik-Glaska, Magdalena; Nowakowska, Beata; Rydzanicz, Malgorzata; Sasiadek, Maria Malgorzata; Ploski, Rafal.
Afiliação
  • Pesz K; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Pienkowski VM; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
  • Pollak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Gasperowicz P; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
  • Sykulski M; Department of Medical Informatics and Telemedicine, Warsaw Medical University, Warsaw, Poland.
  • Kosinska J; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
  • Kiszko M; University Children's Hospital of Cracow, Poland.
  • Krzykwa B; University Children's Hospital of Cracow, Poland.
  • Bartnik-Glaska M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Nowakowska B; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
  • Rydzanicz M; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland. Electronic address: mrydzanicz@wum.edu.pl.
  • Sasiadek MM; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland. Electronic address: rploski@wp.pl.
Eur J Med Genet ; 61(10): 596-601, 2018 Oct.
Article em En | MEDLINE | ID: mdl-29621621
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Translocação Genética / Deficiências do Desenvolvimento / Proteínas da Membrana Plasmática de Transporte de GABA / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E Limite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Translocação Genética / Deficiências do Desenvolvimento / Proteínas da Membrana Plasmática de Transporte de GABA / Acetiltransferase N-Terminal A / Acetiltransferase N-Terminal E Limite: Child / Child, preschool / Humans / Infant Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Polônia