Výsledky vyhledávání - "Harriet R. Saunders"

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A de novo variant in the X‐linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

Autor: Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)

Abstract Background Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in

Externí odkaz: https://doaj.org/article/5ee9dcf0681b434dab3ff066e6565c4e

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A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient

Autor: Hans van Bokhoven, Daniel L. Polla, Bert B.A. de Vries, Arjan P.M. de Brouwer, Harriet R Saunders

Publikováno v: Molecular Genetics & Genomic Medicine, 7
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine, 7, 10
Molecular Genetics & Genomic Medicine

Contains fulltext : 215374.pdf (Publisher’s version ) (Open Access) BACKGROUND: Eight different deletions and point variants of the X-chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epil

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df84b92111a845ec006a51a258c0c2ba
http://hdl.handle.net/2066/215374

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