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List of works by José-Mario Capo-Chichi

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

scientific article

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

scientific article

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

scientific article

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

scientific article

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

scientific article

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

scientific article

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

scientific article

Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay

scientific article

Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia.

scientific article published in November 2013

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

scientific article published on 26 September 2013

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

scientific article

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