Retinitis pigmentosa associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient

김용훈 ,  주광식 ,  성문우 외 2명

Korean Journal of Ophthalmology

2020 .01

Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene

Seung Heo ,  Ja-Hyun Jang ,  Jeesuk Yu

Annals of Pediatirc Endocrinology & Metabolism

2019 .01

Successful Treatment of Tolosa-Hunt Syndrome after a Single Infusion of Infliximab

Ta ,  ek Halabi ,  Raja Sawaya

Journal of Clinical Neurology

2018 .01

A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea

Jeon Jaesung ,  Kim Minji ,  Yoo Sukdong 외 2명

Annals of Pediatirc Endocrinology & Metabolism

2024 .04

Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate

Ji Mi Jung ,  Yun-Jung Lim ,  Ki-Hoon Kim 외 4명

Neonatal medicine

2015 .01

Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy

Ali Me ,  t Koce ,  Mehmet Yasin Teke 외 3명

Journal of Retina

2019 .01

Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia

지민진 ,  정성원 ,  서하은 외 4명

Journal of Clinical Neurology

2020 .01

Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family

최예지 ,  현영세 ,  남수현 외 4명

Journal of Clinical Neurology

2015 .01

Novel Compound Heterozygous Mutations in CTSC Gene in a Chinese Family with Papillon-Lefevre Syndrome

Wang Yuan ,  Zhang Hanmei ,  Feng Suying

Annals of Dermatology

2021 .01

First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy

이지현 ,  이정환 ,  박형준 외 2명

Journal of Clinical Neurology

2016 .01

A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing

Hong ,  Sungwon ,  Lee 외 1명

Journal of genetic medicine

2018 .01

A Novel Frameshift Mutation of SLC26A4 in a Korean Family With Nonsyndromic Hearing Loss and Enlarged Vestibular Aqueduct

보름사공 ,  백정인 ,  이규엽 외 1명

Clinical and Experimental Otorhinolaryngology

2017 .01

Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome

남효은 ,  김정훈 ,  차민영 외 3명

Obstetrics & Gynecology Science

2015 .01

Should We Consider UGT1A1 Mutation Analysis in Evaluating the Prolonged Jaundice of Newborn Infants?

Young Don Kim

Neonatal medicine

2024 .02

Evaluation of lung cancer latency and incidence caused by various administration of urethane to p53-heterozygous null mice

Sun-Min Seo ,  Jun-Young Kim ,  Han-Woong Kim 외 4명

한국실험동물학회 학술발표대회 논문집

2020 .02

Identification of a novel frameshift mutation (L345Sfs*15) in a Korean neonate with methylmalonic acidemia

Kim ,  Young A ,  Kim 외 5명

Journal of genetic medicine

2017 .01

Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1

Eun Sang Rhee ,  Yu Bin Kim ,  Sunghee Lee 외 4명

Pediatric Gastroenterology, Hepatology & Nutrition

2019 .01

Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test

신희철 ,  이한별 ,  유태경 외 10명

Cancer Research and Treatment

2020 .01

Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities

유대산 ,  이승주 ,  김송이 외 2명

Yonsei Medical Journal

2020 .01

Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation

Na Ry Bak ,  Eun Song Song ,  Eun Mi Yang 외 1명

Childhood Kidney Diseases

2019 .01