Browsing by Keyword : Mutation, Missense

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Showing results 1 to 31 of 31

Pub YearTitleAJOU Author(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
2000A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.한시훈
2011CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.김옥화
2015Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.손영배
2000Connexin26 mutations associated with nonsyndromic hearing loss.박기현, 박홍준, 전영명, 한시훈
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
2022Omicron: A Heavily Mutated SARS-CoV-2 Variant Exhibits Stronger Binding to ACE2 and Potently Escapes Approved COVID-19 Therapeutic AntibodiesSHAH, MASAUD, 우현구
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
2012Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation황진순
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
2012TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients김옥화
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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