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KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafnessCraniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acidMutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossPathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonismBiallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosumA potassium channel mutation in neonatal human epilepsyHorizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patientsA high-density association screen of 155 ion transport genes for involvement with common migraineExome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPaseMutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosisMutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseaseHypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosinMutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsiesPOLD1 Germline Mutations in Patients Initially Diagnosed with Werner SyndromeRare missense variants in ATP1A2 in families with clustering of common forms of migraineGermline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility geneHomozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type GrebeGenome-wide association analysis identifies susceptibility loci for migraine without aura.Genome-wide meta-analysis identifies new susceptibility loci for migraine.Shared genetic basis for migraine and ischemic stroke: A genome-wide analysis of common variants.Genome-wide association study reveals three susceptibility loci for common migraine in the general population.Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraineSystematic re-evaluation of genes from candidate gene association studies in migraine using a large genome-wide association data set.A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.A rare missense variant abrogates the signaling activity of tetherin/BST-2 without affecting its effect on virus releaseBRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresIdentification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataractsMutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.
P50
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description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
ricercatore
@it
հետազոտող
@hy
name
Christian Kubisch
@ast
Christian Kubisch
@en
Christian Kubisch
@es
Christian Kubisch
@nl
Christian Kubisch
@sl
type
label
Christian Kubisch
@ast
Christian Kubisch
@en
Christian Kubisch
@es
Christian Kubisch
@nl
Christian Kubisch
@sl
prefLabel
Christian Kubisch
@ast
Christian Kubisch
@en
Christian Kubisch
@es
Christian Kubisch
@nl
Christian Kubisch
@sl
P214
P1053
F-1893-2011
P106
P2038
Christian_Kubisch
P21
P214
P31
P3829
P496
0000-0003-4220-0978
P735
P7859
viaf-306291927