A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions

Keisuke Ueda ,  Fatema Se ,  ajee 외 1명

Journal of Clinical Neurology

2017 .07

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

Congenital Linear Smooth Muscle Hamartoma with Hypertrichosis: Hair Density on Dermoscopy in Parallel with the Number of Smooth Muscle Bundles

손진화 ,  진현주 ,  유향석 외 7명

Annals of Dermatology

2018 .01

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome

Özlem Akgün Doğan ,  Pelin Özlem Şimşek Kipe ,  Gülen Eda Utine 외 4명

Korean Journal of Family Medicine

2017 .01

A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

Min Ju Lee ,  Chae Ri Suh ,  Jeong Hee Shin 외 5명

Pediatric Gastroenterology, Hepatology & Nutrition

2019 .01

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

Congenital hand differences: a comprehensive literature review

Choi Jinil ,  권성택 ,  김병준

Archives of Hand and Microsurgery

2024 .03

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

A case of atypical hemolytic uremic syndrome associated with the c.1273C＞T mutation in the complement C3 gene

Hye Jeong Cho ,  Jung O Kim ,  허지영 외 4명

Blood Research

2016 .01

Mutation analysis and characterisation of F9 gene in haemophilia- B population of India

Sujayend ,  a Kulka ,  ni 외 13명

Blood Research

2021 .12

Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

김희남 ,  신민호 ,  이란 외 2명

전남의대학술지

2019 .01

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism

Xiao Zheng ,  Shao-Gang Ma ,  Man-Li Guo 외 2명

Yonsei Medical Journal

2017 .07

Occult HBV among Anti-HBc Alone: Mutation Analysis of an HBV Surface Gene and Pre-S Gene

김명희 ,  강소영 ,  이우인

Yonsei Medical Journal

2017 .01

Concurrent SHORT syndrome and 3q duplication syndrome

Boaz ,  Alexande ,  M. 외 8명

Journal of genetic medicine

2019 .01

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

김재형 ,  황정민

Korean Journal of Ophthalmology

2017 .06

The Progression of SARS Coronavirus 2 (SARS-CoV2): Mutation in the Receptor Binding Domain of Spike Gene

Sinae Kim ,  Jong Ho Lee ,  Siyoung Lee 외 21명

Immune Network

2020 .10

A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia

Son ,  Yu Yun ,  Lee 외 11명

Journal of genetic medicine

2015 .01

Frequency of K-RAS and N-RAS Gene Mutations in Colorectal Cancers in Southeastern Iran

Nase ,  i ,  Mohsen 외 11명

Asian Pacific journal of cancer prevention : APJCP

2016 .01

Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Woo ,  Hyewon ,  Ko 외 5명

Journal of genetic medicine

2016 .01