Browsing by Keyword : Pedigree

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Showing results 1 to 30 of 30

Publication YearTitleAJOU
Author
2006A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.김대중이관우김세중정윤석
2010A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.김옥화
2014A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.정주용
2004A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.주인수허균
2006A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.김대중
2000Connexin26 mutations associated with nonsyndromic hearing loss.박홍준한시훈전영명박기현
2005Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia.김대중
1995Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity.김효철
2006Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.황진순
2000Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.한시훈
2010Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.김현주정선용정연훈김유찬
2005Homocysteine levels--before and after methionine loading--in 51 Dutch families.이순영
2019Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes장정훈정연훈
2017Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies김정현
2018Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder박찬배이영수김정현정선용임신영
2014Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.이기영정선용임신영
2017Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty이해상
2016Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma이해상황진순
2018Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics장정훈정연훈
2014Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy김옥화
2010Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.황진순김성환
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2016Pseudo-dominant inheritance in Wilson's disease윤정한
2014Similar clinical characteristics of familial and sporadic inflammatory bowel disease in South Korea.정숙희
2010Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.김옥화
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2005Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.김대중이관우
2014Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.정주용
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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