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A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency

scientific article published on 08 August 2018

Genome-Wide DNA Alterations in X-Irradiated Human Gingiva Fibroblasts

artículo científico publicado en 2020

Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

artículo científico publicado en 2020

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.

artículo científico publicado en 2007

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation

artículo científico publicado en 2004

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

artículo científico publicado en 2004

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