about
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasiaMutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesDeficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessMutations in C5ORF42 cause Joubert syndrome in the French Canadian populationDisruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeRecessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: Confirmatory report in a sibship with very early onset, osteoporosis and developmental delay.Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia.
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description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
José-Mario Capo-Chichi
@ast
José-Mario Capo-Chichi
@en
José-Mario Capo-Chichi
@es
José-Mario Capo-Chichi
@nl
José-Mario Capo-Chichi
@sl
type
label
José-Mario Capo-Chichi
@ast
José-Mario Capo-Chichi
@en
José-Mario Capo-Chichi
@es
José-Mario Capo-Chichi
@nl
José-Mario Capo-Chichi
@sl
prefLabel
José-Mario Capo-Chichi
@ast
José-Mario Capo-Chichi
@en
José-Mario Capo-Chichi
@es
José-Mario Capo-Chichi
@nl
José-Mario Capo-Chichi
@sl
P106
P21
P31
P496
0000-0002-7440-3633