Whole-Exome Sequencing Reveals an M268T Mutation in the Angiotensinogen Gene of Four Unrelated Renal Failure Patients from the Hail Region of Saudi Arabia Journal title: International Journal of Medical Research & Health Sciences (IJMRHS) Authors: Nuglozeh Edem| Molecular and Diagnostics Personalized Therapeutic Unit, University of Hail School of... Subject(s): Medicine, Biomedicine, Dentistry and Oral Surgery, Oncology, Public Health and Community Medicine
Successful Growth Hormone Therapy in Cornelia de Lange Syndrome Journal title: Journal of Clinical Research in Pediatric Endocrinology Authors: Michael de Graaf, Sarina G Kant, Jan Maarten Wit, Egbert Johan Willem Redeker, Gijs Willem Eduard Sa... Subject(s): Medicine, Internal Medicine, Pediatrics
Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis Journal title: Jornal de Pediatria Authors: Ana Cristina Simões-e-Silva Subject(s):
CPLSTool: A Framework to Generate Automatic Bioinformatics Pipelines Journal title: Biomedical Journal of Scientific & Technical Research (BJSTR) Authors: Sifen Lu, Jing Song, Maoshan Chen Subject(s):
THE EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY ASSOCIATED WITH MUTATION IN GABRB3 GENE Journal title: World Journal of Pharmaceutical Research Authors: T.V. Kozhanova Subject(s):
Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families Journal title: International Journal of Ophthalmology Authors: Tuo Li Subject(s):
Genetic causes of isolated congenital heart disease Journal title: Chinese Journal of Clinical Research Authors: PAN Honggui, XIE Ruibin, LONG Qihai, ZHU Xingmei Subject(s): Medicine
