Klar, Joakim, 1974-
Joakim Klar researcher
VIAF ID: 44277593 (Personal)
Permalink: http://viaf.org/viaf/44277593
Preferred Forms
- 100 0 _ ‡a Joakim Klar ‡c researcher
- 100 1 _ ‡a Klar, Joakim ‡d 1974-
- 100 1 _ ‡a Klar, Joakim, ‡d 1974-
4xx's: Alternate Name Forms (1)
Works
Title | Sources |
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Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. | |
Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. | |
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis | |
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome | |
A chromosome 10 variant with a 12 Mb inversion [inv(10)(q11.22q21.1)] identical by descent and frequent in the Swedish population. | |
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis. | |
Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity. | |
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation | |
Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. | |
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments | |
Familial Ménière's disease in five generations. | |
A founder mutation for ichthyosis prematurity syndrome restricted to 76 kb by haplotype association | |
Generation of a human iPSC line (UUIGPi015-A) from a patient with Dravet syndrome and a 2.9 Mb deletion spanning SCN1A on chromosome 2 | |
Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations | |
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders | |
Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. | |
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 | |
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes | |
A Meniere's disease gene linked to chromosome 12p12.3. | |
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers | |
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy | |
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). | |
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. | |
Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands | |
Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. | |
A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency | |
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). | |
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair | |
Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. | |
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description. | |
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution. | |
Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation. | |
Positional cloning of disease causing genes, 2005: | |
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42 | |
Recurrent GATA1 mutations in Diamond-Blackfan anaemia | |
A Single-Nucleotide Deletion in the POMP 5′ UTR Causes a Transcriptional Switch and Altered Epidermal Proteasome Distribution in KLICK Genodermatosis. | |
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. | |
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype | |
Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions | |
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopment | |
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. | |
Vascular endothelial growth factor B controls endothelial fatty acid uptake. | |
Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. | |
Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families | |
Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants | |
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations. | |
α-cardiac actin mutations produce atrial septal defects |