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Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange, Iris M; Koudijs, Marco J; van 't Slot, Ruben; Sonsma, Anja C M; Mulder, Flip; Carbo, Ellen C; van Kempen, Marjan J A; Nijman, Isaac J; Ernst, Robert F; Savelberg, Sanne M C; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C.
Afiliação
  • de Lange IM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Koudijs MJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van 't Slot R; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Sonsma ACM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Mulder F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Carbo EC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van Kempen MJA; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Nijman IJ; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Ernst RF; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Savelberg SMC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Knoers NVAM; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Brilstra EH; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Koeleman BPC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
J Med Genet ; 56(2): 75-80, 2019 02.
Article em En | MEDLINE | ID: mdl-30368457
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Sequenciamento de Nucleotídeos em Larga Escala / Canal de Sódio Disparado por Voltagem NAV1.1 / Mosaicismo Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Sequenciamento de Nucleotídeos em Larga Escala / Canal de Sódio Disparado por Voltagem NAV1.1 / Mosaicismo Limite: Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article