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UnknownMutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Not available
S-EPMC419991 | biostudies-literature
UnknownA recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Not available
S-EPMC4731685 | biostudies-literature
UnknownMutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Not available
S-EPMC1180399 | biostudies-literature
UnknownLinkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
Not available
S-EPMC1274492 | biostudies-literature
UnknownMutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
Not available
S-EPMC1196432 | biostudies-literature
UnknownAP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?
Not available
S-EPMC5820597 | biostudies-literature
UnknownStructural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
Not available
S-EPMC2986218 | biostudies-literature
UnknownMutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Not available
S-EPMC3334308 | biostudies-literature
UnknownX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Not available
S-EPMC5414091 | biostudies-literature
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