Showing results (191-200 of 197) with videos related to
Sort By:
Pageof 20
You have reached the last page of results.This site can display upto 197 results.
Molecular Medicine (Cambridge, Mass.)|March 29, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delayGo Hun Seo, Hane Lee, Jungsul Lee, et al.Medicine|July 21, 2017
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotypeJin-Ho Choi, Beom Hee Lee, Sun Hee Heo, et al.Journal of Korean Medical Science|July 21, 2020
Psychological Impact of Quarantine on Caregivers at a Children's Hospital for Contact with Case of COVID-19Harin Kim, Kee Jeong Park, Yong Wook Shin, et al.Neuro-Oncology|July 8, 2024
Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibromaHyery Kim, Hee Mang Yoon, Eun Key Kim, et al.Medicine|July 15, 2022
Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseasesIn Hee Choi, Go Hun Seo, JeongYun Park, et al.Journal of Inherited Metabolic Disease|January 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub> Man tetrasaccharide and clinical spectrum of six new casesMerel A Post, Isis de Wit, Fokje S M Zijlstra, et al.American Journal of Human Genetics|August 31, 2022
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomalyQuentin Thomas, Marialetizia Motta, Thierry Gautier, et al.Pageof 20