Zobrazeno 1 - 5 of 5 pro vyhledávání: '"A. L. Allou"'
1
Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 ‐related disease
Autor: V. Roth, L. Allou, Daniel Amsallem, Philippe Jonveaux, Aline Saunier, P. Bouquet, Christophe Philippe, S. El Chehadeh, Sophie Julia, Julien Thevenon, A. Moustaïne, S. Pere, Laetitia Lambert, L. Ruaud, Yannis Duffourd
Publikováno v: Clinical Genetics. 91:431-440
Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next-generation sequencing (NGS) to evaluate for mutations in known or new candidate genes in patients with variant forms of Rett or Rett-like phen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bfa5f451926ba08c6278a9252108d4a1
https://doi.org/10.1111/cge.12784
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2
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease
Autor: L, Allou, S, Julia, D, Amsallem, S, El Chehadeh, L, Lambert, J, Thevenon, Y, Duffourd, A, Saunier, P, Bouquet, S, Pere, A, Moustaïne, L, Ruaud, V, Roth, P, Jonveaux, C, Philippe
Publikováno v: Clinical genetics. 91(3)
Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next-generation sequencing (NGS) to evaluate for mutations in known or new candidate genes in patients with variant forms of Rett or Rett-like phen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5395547193522b1270f9883b5864035b
https://pubmed.ncbi.nlm.nih.gov/27062609
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Plný text Recenzováno Digitální knihovna AV ČR
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