about
DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingLoss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasiaFurther delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesisMutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degenerationAutosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblingsPeripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4Cystinuria: an inborn cause of urolithiasisDisruption of a ciliary B9 protein complex causes Meckel syndromeMutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesCystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genesEvidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathyDeficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3Pontocerebellar hypoplasia.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
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հետազոտող
@hy
name
Klaus Zerres
@ast
Klaus Zerres
@en
Klaus Zerres
@es
Klaus Zerres
@nl
Klaus Zerres
@sl
type
label
Klaus Zerres
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Klaus Zerres
@en
Klaus Zerres
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Klaus Zerres
@nl
Klaus Zerres
@sl
prefLabel
Klaus Zerres
@ast
Klaus Zerres
@en
Klaus Zerres
@es
Klaus Zerres
@nl
Klaus Zerres
@sl