about
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairmentAdenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pCOPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisChallenges and solutions for gene identification in the presence of familial locus heterogeneity.Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in MiceNovel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityConfirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis PigmentosaMYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variantsNovel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment
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description
researcher ORCID ID = 0000-0003-1389-1220
@en
name
Kwanghyuk Lee
@ast
Kwanghyuk Lee
@en
Kwanghyuk Lee
@es
Kwanghyuk Lee
@nl
type
label
Kwanghyuk Lee
@ast
Kwanghyuk Lee
@en
Kwanghyuk Lee
@es
Kwanghyuk Lee
@nl
prefLabel
Kwanghyuk Lee
@ast
Kwanghyuk Lee
@en
Kwanghyuk Lee
@es
Kwanghyuk Lee
@nl
P106
P1153
55734347749
P31
P496
0000-0003-1389-1220