A Novel Transglutaminase-1 Missense Mutation in a Palestinian Family with Autosomal Recessive Congenital Ichthyosis: A Case Report Journal title: Journal of Advances in Medicine and Medical Research Authors: Mohammed J. Ashour, Shadi F. Al-Ashi, Fadel A. Sharif Subject(s):
Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India Journal title: Journal of Clinical Research in Pediatric Endocrinology Authors: Devi Dayal, Keerthivasan Seetharaman, Inusha Panigrahi, Balasubramaniyan Muthuvel, Ashish Agarwal Subject(s): Medicine, Internal Medicine, Pediatrics
Novel Mutations (8899c>T And 8907c>T) Of The Mitochondrial Atpase 6 Gene In Iraqi Asthenozoospermic Patients Journal title: INTERNATIONAL JOURNAL OF CURRENT RESEARCH Authors: Oday A. Mahdy, Ismail A. Abdul-Hassan Subject(s):
Identification of A Novel Missense Mutation in The Norrie Disease Gene: The First Molecular Genetic Analysis and Prenatal Diagnosis of Norrie Disease in An Iranian Family Journal title: Cell Journal(Yakhteh) Authors: Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Ali Lashgari, Freidoon Farhadi Subject(s): Medicine
