Search Result "pathogenicvariants."
Heart Disease in Mothers of Children with Duchenne Muscular Dystrophy
Journal: Current Cardiology Reviews
Volume: 20 Issue: 6 Year: 2024 Page: 68-75
Author(s): Rose Mary Ferreira Lisboa da Silva
Bioinformatics in Precision Medicine
Ebook: Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine
Volume: 1 Year: 2021
Author(s): James Reigle,Phillip J. Dexheimer,Behrouz Shamsaei,Alexander Thorman,Somchai Chutipongtanate,Jarek Meller
Doi: 10.2174/9789815036756121010005
Case Report: Novel Pathogenic Variant Detected in Two Siblings withType 1 Gaucher Disease
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 14 Year: 2023 Page: 1780-1783
Author(s):
Itâs Never Too Late for a Diagnosis
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 22-22
Author(s):
High Prevalence of a c.5979dupA Variant in the Dysferlin Gene (DYSF) inIndividuals from a Semiarid Region of Brazil
Journal: Current Genomics
Volume: 24 Issue: 5 Year: 2023 Page: 330-335
Author(s): Isabella A. Motta,Maria L.A. Gouveia,Ana P.M. Braga,Rafael S. Andrade,Mayra F.F. Montenegro,Sandra N. Gurgel,Keila M.F. Albuquerque,Priscilla A.N.G. Souto,Flávia P.B.F. Cardoso,Joseane S. Araujo,Mirella C.L. Pinheiro,Carlos E.P. da Silva,Pamella A.S. Gurgel,Matheus M. Perez,Glaucia L. da Veiga,Beatriz C.A. Alves,Fernando L.A. Fonseca,Alzira A.S. Carvalho
PET/MRI Delivers Multimodal Brain Signature in Alzheimerâs Disease with De Novo PSEN1 Mutation
Journal: Current Alzheimer Research
Volume: 18 Issue: 2 Year: 2021 Page: 178-184
Author(s): Gayane Aghakhanyan,Dorothee Saur,Michael Rullmann,Christopher M. Weise,Matthias L. Schroeter,Ken Marek,Rami Abou Jamra,Solveig Tiepolt,Maria Strauss,Cordula Scherlach,Karl-Titus Hoffmann,Osama Sabri,Joseph Classen,Henryk Barthel
Identification of Two Novel Pathogenic Variants of the ATM Gene inthe Iranian-Azeri Turkish Ethnic Group by Applying Whole ExomeSequencing
Journal: Current Genomics
Volume: 24 Issue: 6 Year: 2023 Page: 345-353
Author(s):
Challenges in Genetic Diagnosis of Mitochondrial Diseases: What CanFunctional Genomics' Studies Do?
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 9-9
Author(s):
COVID19 - Far from Over: Call for Urgent Novel and Advanced Measures
Journal: Coronaviruses
Volume: 3 Issue: 2 Year: 2022 Page: 6-9
Author(s): Abhigyan Choudhury,Suprabhat Mukherjee
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing NoonanSyndrome - A Novel Approach to Explore the Molecular Pathways
Journal: Current Genomics
Volume: 22 Issue: 7 Year: 2021 Page: 526-540
Author(s): Sheeja Rajasingh,Narasimman Gurusamy,Arunima Panda,Johnson Rajasingh