Showing results (171-180 of 197) with videos related to

Sort By:
Pageof 20
Journal of Human Genetics|February 25, 2025
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndromeDohyung Kim, Ji-Hee Yoon, Hyunwoo Bae, et al.
Journal of Human Genetics|November 29, 2019
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation typesEungu Kang, Yoon-Myung Kim, Go Hun Seo, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|May 30, 2019
Characterization of the Subventricular-Thalamo-Cortical Circuit in the NP-C Mouse Brain, and New Insights Regarding TreatmentMin Hee Park, Byung Jo Choi, Min Seock Jeong, et al.
Molecular Genetics & Genomic Medicine|April 6, 2024
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literatureJun Hee Cho, Soojin Hwang, Yoon Hae Kwak, et al.
Scientific Reports|November 12, 2020
Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patientsYou Na Kim, Joon Seon Song, Seak Hee Oh, et al.
Cells|April 8, 2020
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug EfficacyDongkyu Kim, Su-Bin Kim, Jung Lim Ryu, et al.
Scientific Reports|April 2, 2025
Therapeutic effects of lomerizine on vasculopathy in Fabry diseaseJong Bin Choi, Hyo-Sang Do, Dong-Won Seol, et al.
Clinical Genetics|June 4, 2023
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical applicationJiwon Jung, Joo Hoon Lee, Go Hun Seo, et al.
Pediatric Gastroenterology, Hepatology & Nutrition|May 28, 2021
Efficacy of Living Donor Liver Transplantation in Patients with Methylmalonic AcidemiaJae Guk Jang, Seak Hee Oh, Yu Bin Kim, et al.
American Journal of Hematology|February 19, 2021
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life dataMajdolen Istaiti, Shoshana Revel-Vilk, Michal Becker-Cohen, et al.
Pageof 20