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
The Differential Diagnosis of “Tigroid Pattern” on Brain Magnetic Resonance Imaging: A Case Report Journal title: Turkish Journal of Neurology Authors: Nihan Hande Akçakaya Subject(s): Medicine, Neurology, Neuroscience
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-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report Journal title: Journal of Clinical and Diagnostic Research Authors: Edem Nuglozeh Subject(s):
Sporadic Isolated Fanconi Syndrome due to a Mutation of EHHADH: A Case Report Journal title: Journal of Clinical Nephrology and Renal Care Authors: Subject(s):
A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family Journal title: Cell Journal(Yakhteh) Authors: Ahoura Nozari, Ehsan Aghaei-Moghadam, Aliakbar Zeinaloo, Afagh Alavi, Saghar Ghasemi Firouzabdi, Sho... Subject(s): Medicine
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran Journal title: Iranian Rehabilitation Journal Authors: Ali Nikfar, Mojdeh Mansouri, Gita Fatemi Abhari Subject(s):
Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree Journal title: International Journal of Ophthalmology Authors: Chun Ding Subject(s):
A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing Journal title: Turkish Journal of Hematology Authors: İlker Karacan, Reyhan Diz Küçükkaya, Fatma Nur Karakuş, Seyhun Solakoğlu, Aslıhan Tolun, Veysel Sabr... Subject(s):
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):
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report Journal title: Iranian Journal of Medical Sciences Authors: Lorena Díaz-Ordoñez, Diana Ramirez-Montaño, Estephania Candelo, Santiago Cruz, Harry Pachajoa Subject(s):
Non-Syndromic X Linked Intellectual Disability in Two Brothers with A Novel NLGN4X Gene Splicing Mutation (NC_018934.2: g. 1202C>A) Journal title: Journal of Case Reports and Studies Authors: Bouazzi H Subject(s):
Exome Sequencing of Sporadic GH-Secreting Pituitary Adenomas Journal title: Biomedical Journal of Scientific & Technical Research (BJSTR) Authors: Changpeng Wu, Xiejun Zhang, Yuansen Shu, Qian Zhou, Weiping Li 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):
