Showing results 1 to 29 of 29
|A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
|A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
|A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.
|A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.
|Connexin26 mutations associated with nonsyndromic hearing loss.
|박기현, 박홍준, 전영명, 한시훈
|Ectopic expression of vasopressin V1b and V2 receptors in the adrenal glands of familial ACTH-independent macronodular adrenal hyperplasia.
|Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity.
|Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I.
|Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
|김유찬, 김현주, 정선용, 정연훈
|Homocysteine levels--before and after methionine loading--in 51 Dutch families.
|Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes
|Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies
|Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder
|김정현, 박찬배, 이영수, 임신영, 정선용
|Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing
|금창대, 노정기, 이해상, 정선용, 정재연, 황진순
|Identification 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.
|이기영, 임신영, 정선용
|Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty
|Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma
|Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics
|Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy
|Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
|Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
|PAPSS2 mutations cause autosomal recessive brachyolmia
|Pseudo-dominant inheritance in Wilson's disease
|Similar clinical characteristics of familial and sporadic inflammatory bowel disease in South Korea.
|Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
|The first successful prenatal diagnosis on a Korean family with citrullinemia.
|Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
|Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
|Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.