about
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosisAlpha-cardiac actin mutations produce atrial septal defectsMutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glandsA missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutationNovel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiencyMutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hairPhenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.Vascular endothelial growth factor B controls endothelial fatty acid uptake.Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities.A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis.Familial Ménière's disease in five generations.A Meniere's disease gene linked to chromosome 12p12.3.Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population.Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype associationA novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effectIsolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genesRecurrent GATA1 mutations in Diamond-Blackfan anaemiaWhole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani familiesStereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotypeExpanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachmentsGeneration of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Joakim Klar
@ast
Joakim Klar
@en
Joakim Klar
@es
Joakim Klar
@nl
type
label
Joakim Klar
@ast
Joakim Klar
@en
Joakim Klar
@es
Joakim Klar
@nl
prefLabel
Joakim Klar
@ast
Joakim Klar
@en
Joakim Klar
@es
Joakim Klar
@nl
P214
P906
P106
P214
P31
P496
0000-0003-4185-7409
P569
1974-01-01T00:00:00Z
P7859
viaf-44277593