Search Result "novel mutation"
Co-Existence of Novel PDE6A Mutations and A Recurrent RPGR Mutation: A Potential Explanation for Phenotypic Diversity in Female RPGR Mutation Carriers
Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 306-311
Author(s): X. Chen,X. Sheng,G. Liu,Y. Liu,H. Li,P. Xie,Q. Liu,B. Yan,C. Zhao
A Novel SCN9A Mutation (F826Y) in Primary Erythromelalgia Alters the Excitability of Nav1.7
Journal: Current Molecular Medicine
Volume: 17 Issue: 6 Year: 2017 Page: 450-457
Author(s): B. Wu,Y. Zhang,H. Tang,M. Yang,H. Long,G. Shi,J. Tang,X. Shi
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 22 Issue: 10 Year: 2022 Page: 1040-1046
Author(s): Raul Jimenez Heredia,Bibi Shahin Shamsian
Novel GLI3 Mutations in Chinese Patients with Non-syndromic Post-axial Polydactyly
Journal: Current Molecular Medicine
Volume: 19 Issue: 3 Year: 2019 Page: 228-235
Author(s): X. Chen,L. Yuan,H. Xu,P. Hu,Y. Yang,Y. Guo,Z. Guo,H. Deng
A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency(DOLK-CDG)
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 235-241
Author(s):
Identification of Two Novel Mutations in the ATM Gene from Patients with Ataxia-Telangiectasia by Whole Exome Sequencing
Journal: Current Genomics
Volume: 20 Issue: 7 Year: 2019 Page: 531-534
Author(s): Masoud Heidari,Morteza Soleyman-Nejad,Mohammad H. Taskhiri,Javad Shahpouri,Alireza Isazadeh,Roghayyeh Ahangari,Ali R. Mohamadi,Masoumeh Ebrahimi,Hadi Karimi,Manzar Bolhassani,Zahra Karimi,Mansour Heidari
FAT4 Mutation is Related to Tumor Mutation Burden and Favorable Prognosis in Gastric Cancer
Journal: Current Genomics
Volume: 25 Issue: 5 Year: 2024 Page: 380-389
Author(s):
Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 21 Issue: 9 Year: 2021 Page: 1660-1668
Author(s): Seyed F. Maroufi,Zoha Shaka,Helia Mojtabavi,Mona Sadeghalvad,Elham Rayzan,Iraj Sedighi,Sepideh Shahkarami,Mehri Najafi,Meino Rohlfs,Christoph Klein,Nima Rezaei
Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL
Journal: CNS & Neurological Disorders - Drug Targets
Volume: 16 Issue: 1 Year: 2017 Page: 30-35
Author(s): Xiaoxia Hou,Chuan He,Qingwen Jin,Qi Niu,Guang Ren,Hong Cheng
Probable Novel PSEN1 Gln222Leu Mutation in a Chinese Family with Early-Onset Alzheimer's Disease
Journal: Current Alzheimer Research
Volume: 16 Issue: 8 Year: 2019 Page: 764-769
Author(s): Huayuan Wang,Ruihua Sun,Yingying Shi,Mingrong Xia,Jing Zhao,Miaomiao Yang,Limin Ma,Yajing Sun,Gai Li,Haohan Zhang,Weiwei Qin,Jiewen Zhang