Browsing by Keyword : Mutation, Missense

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Showing results 1 to 26 of 26

Pub YearTitleAuthor(s)
2017A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes손영배, 송형근, 정윤석, 최용준
2000A novel germ line juxtamembrane Met mutation in human gastric cancer.이재호, 조혜성, 한상욱
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
2009Association of lamivudine-resistant mutational patterns with the antiviral effect of adefovir in patients with chronic hepatitis B.정재연, 조성원
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2018Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports강정현, 이정근
2013Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.손영배
2002Functional study of GJB2 in hereditary hearing loss.문성균, 정연훈
2014Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.손영배
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2020Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing금창대, 노정기, 이해상, 정선용, 정재연, 황진순
2016Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls권은별, 이해상, 정선용, 황진순
2013Multidrug-resistant hepatitis B virus resulting from sequential monotherapy with lamivudine, adefovir, and entecavir: clonal evolution during lamivudine plus adefovir therapy.김순선, 정재연, 조성원
2014Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy김옥화
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2010Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.김성환, 황진순
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2014Perturbation of NCOA6 leads to dilated cardiomyopathy.박찬배
2015Phosphorylation of phosphatidylinositol 4-phosphate 5-kinase γ by Akt regulates its interaction with talin and focal adhesion dynamics.이상윤, 주일로
2017PLK4 phosphorylation of CP110 is required for efficient centriole assembly장재락
2011Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.김옥화
2005Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.김대중, 이관우
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
2019Ufd1 phosphorylation at serine 229 negatively regulates endoplasmic reticulum-associated degradation by inhibiting the interaction of Ufd1 with VCP이상윤
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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