Search Result "ACMG."

Management of Incidental Findings in the Era of Next-generation Sequencing

Journal: Current Genomics
Volume: 16 Issue: 3 Year: 2015 Page: 159-174
Author(s): Heather L. Blackburn,Bradley Schroeder,Clesson Turner,Craig D. Shriver,Darrell L. Ellsworth,Rachel E. Ellsworth

Research Article

Analysis of Novel Variants Associated with Three Human Ovarian CancerCell Lines

Journal: Current Bioinformatics
Volume: 17 Issue: 4 Year: 2022 Page: 380-392
Author(s): Venugopala Reddy Mekala

Clinical Next Generation Sequencing for Precision Medicine in Cancer

Journal: Current Genomics
Volume: 16 Issue: 4 Year: 2015 Page: 253-263
Author(s): Ling Dong,Wanheng Wang,Alvin Li,Rina Kansal,Yuhan Chen,Hong Chen,Xinmin Li

Mini-Review Article

Possibilities and Limitations of CNV Interpretation Software andAlgorithms in Homo Sapiens

Journal: Current Bioinformatics
Volume: 17 Issue: 10 Year: 2022 Page: 883-887
Author(s): Maria A. Zelenova,Ivan Y. Iourov

Research Article

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

Case Report

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

Tandem Mass Spectrometry Newborn Screening for Inborn Errors of Intermediary Metabolism: Abnormal Profile Interpretation

Journal: Current Medicinal Chemistry
Volume: 19 Issue: 2 Year: 2012 Page: 4511-4522
Author(s): C. Fernandez-Lainez, JJ. Aguilar-Lemus, M. Vela-Amieva, I. Ibarra-Gonzalez

Research Article

Clinical Phenotype and Mutation Spectrum of Alzheimer’s Disease with Causative Genetic Mutation in a Chinese Cohort

Journal: Current Alzheimer Research
Volume: 18 Issue: 3 Year: 2021 Page: 265-272
Author(s): Chenhui Mao,Jie Li,Liling Dong,Xinying Huang,Dan Lei,Jie Wang,Shanshan Chu,Caiyan Liu,Bin Peng,Gustavo C. Román,Liying Cui,Jing Gao

Systematic Review Article

What Do We Know about Neonatal Diabetes caused by PDX1 Mutations?

Journal: Current Diabetes Reviews
Volume: 21 Issue: 1 Year: 2025 Page: 18-25
Author(s): Ritiele Bastos de Souza,Pedro Hernán Cabello,Eliane Lopes Rosado,Mário Campos Junior

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