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An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.

artículo científico publicado en 2015

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency

scientific article published on 25 February 2015

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

artículo científico publicado en 2011

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

artículo científico publicado en 2015

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita

artículo científico publicado en 2017

Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.

artículo científico publicado en 2014

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

artículo científico publicado en 2016

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

scientific journal article

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

artículo científico publicado en 2015

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