Search Result "Missensemutation"
Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome
Journal: Current Molecular Medicine
Volume: 18 Issue: 3 Year: 2018 Page: 152-159
Author(s): B. Lin,B. Zeng,J. Zhao,T. Xu,Y. Wang,B. Hu,F. Li,Q. Zhao,R. Liu,J. Liu,J.M. Chen,D. Huang,Y. Wang
Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency ina Female Patient
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 5 Year: 2023 Page: 721-726
Author(s):
Calcium Signaling, PKC Gamma, IP3R1 and CAR8 Link Spinocerebellar Ataxias and Purkinje Cell Dendritic Development
Journal: Current Neuropharmacology
Volume: 16 Issue: 2 Year: 2018 Page: 151-159
Author(s): Etsuko Shimobayashi,Josef P. Kapfhammer
Identification of Two Novel Mutations in PKHD1 Gene from Two Families with Polycystic Kidney Disease by Whole Exome Sequencing
Journal: Current Genomics
Volume: 22 Issue: 3 Year: 2021 Page: 232-236
Author(s): Masoud Heidari,Hamid Gharshasbi,Alireza Isazadeh,Morteza Soleyman-Nejad,Mohammad Hossein Taskhiri,Javad Shapouri,Manzar Bolhassani,Nahid Sadighi,Mansour Heidari
Prediction of Deleterious Single Amino Acid Polymorphisms with aConsensus Holdout Sampler
Journal: Current Genomics
Volume: 25 Issue: 3 Year: 2024 Page: 171-184
Author(s): Eshel J. Faraggi,Juan L. Fernández-MartÃnez
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
Journal: Current Molecular Medicine
Volume: 19 Issue: 7 Year: 2019 Page: 487-493
Author(s): Bárbara J. Henriques,Tânia G. Lucas,Esmeralda Martins,Ana Gaspar,Anabela Bandeira,Célia Nogueira,Otilia Brandão,Hugo Rocha,Laura Vilarinho,Cláudio M. Gomes
The Small Heat Shock Protein HspB8: Role in Nervous System Physiology and Pathology
Journal: CNS & Neurological Disorders - Drug Targets
Volume: 13 Issue: 5 Year: 2014 Page: 885-895
Author(s): Mattia Vicario,Stephen D. Skaper,Alessandro Negro
Molecular Biology and Mutations of K+ Channels
Ebook: Potassium Channels as a Target for Clinical Therapeutics
Volume: 1 Year: 2012
Author(s): Izabela Rusiecka,Ivan Kocic
Doi: 10.2174/978160805235611201010078
Comparative Analysis of Machine Learning Algorithms Evaluating the SingleNucleotide Polymorphisms of Metabolizing Enzymes with Clinical OutcomesFollowing Intravenous Paracetamol in Preterm Neonates with Patent DuctusArteriosus
Journal: Current Drug Metabolism
Volume: 25 Issue: 2 Year: 2024 Page: 128-139
Author(s): George Priya Doss C
Mutation Resistant Target Prediction Algorithm in PCR Based Diagnostic Applications
Ebook: Applied Machine Learning and Multi-Criteria Decision-Making in Healthcare
Volume: 1 Year: 2021
Author(s): Murat Sayan,Osman Doluca
Doi: 10.2174/9781681088716121010017