어린선과 동반된 건선을 Ustekinumab으로 치료한 1예

국형돈 ,  배주윤 ,  이동헌 외 3명

대한건선학회지

2021 .12

A Possible Case of Statin-Induced Ichthyosis in an Elderly Woman

고기동 ,  김경곤 ,  백진옥 외 2명

Korean Journal of Family Medicine

2018 .01

A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis

Kim ,  Jihye ,  Ko 외 7명

Journal of genetic medicine

2019 .01

Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report

이학민 ,  오지영 ,  한정호 외 7명

Perinatology

2021 .12

Prenatal diagnosis of harlequin ichthyosis: a case report

Mudunu ,  i Vijayakuma ,  i 외 6명

Obstetrics & Gynecology Science

2020 .01

Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family

Shilin Yang ,  Shufen Chen ,  Yu-Qiong Jiao 외 3명

Journal of Clinical Neurology

2020 .01

Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy

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

Journal of Retina

2019 .01

A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia

이수정 ,  Sumai ,  a Kanwal 외 4명

Journal of Clinical Neurology

2019 .01

Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal Anomalies

Dong Hoon Shin ,  Ah Reum Kim ,  Hye In Woo 외 5명

Korean Journal of Ophthalmology

2020 .01

Optical Coherence Tomography Findings Facilitate the Diagnosis of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

조현아 ,  류철형 ,  박성은 외 3명

Korean Journal of Ophthalmology

2021 .01

Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

Gu Hwan Kim ,  Byoung Sop Lee ,  Ki-Soo Kim 외 6명

Neonatal medicine

2015 .01

Prenatal Diagnosis of a Fatal Case of Fetal Autosomal Dominant Polycystic Kidney Disease

서가원 ,  정지은 ,  홍승연 외 1명

Perinatology

2023 .03

Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren–Larsson Syndrome

김제연 ,  김신혜 ,  박미정 외 5명

Annals of Laboratory Medicine

2018 .01

Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea

Chang-Seok Ki ,  M.D.

Annals of Laboratory Medicine

2019 .01

Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization

이누리 ,  윤나영 ,  정민영 외 6명

Journal of Korean Medical Science

2016 .01

Mutations in GJB2 as Major Causes of Autosomal Recessive Non-Syndromic Hearing Loss: First Report of c.299-300delAT Mutation in Kurdish Population of Iran

Fatemeh Azadegan-Dehko ,  di ,  Tayyebe Bah 외 16명

Journal of Audiology & Otology

2019 .01

Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

Yun Kyo Oh ,  Koung Eun Choi ,  Youn-Jeong Shin 외 5명

Neonatal medicine

2021 .08

Surgical Treatment of Syndactyly of Harlequin Ichthyosis

Sung Jae Ahn ,  Jong Won Hong

Archives of Hand and Microsurgery

2018 .01

Identification of a Novel Nonsense Mutation in the ARSE Gene of a Patient with X-Linked Recessive Chondrodys- plasia Punctata

Jin Woong Doo ,  Ja-Hyun Jang ,  Eun Hae Cho 외 2명

Neonatal medicine

2016 .01

Potential Risk Factors for Breast Cancer in Pakistani Women

Bano ,  Raisa ,  Ismail 외 8명

Asian Pacific journal of cancer prevention : APJCP

2016 .01