Search Result "whole-exomesequencing."


Research Article

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):

Research Article

Screening for Genetic Mutations Associated with Early-Onset Alzheimer’sDisease in Han Chinese

Journal: Current Alzheimer Research
Volume: 19 Issue: 10 Year: 2022 Page: 724-733
Author(s):

Review Article

The Promise of Whole-exome Sequencing for Prenatal Genetic Diagnosis

Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 17 Issue: 1 Year: 2020 Page: 25-31
Author(s): Jiun Kang

Research Article

Presenilin 1 and APP Gene Mutations in Early-Onset AD Families from a Southeast Region of China

Journal: Current Alzheimer Research
Volume: 17 Issue: 6 Year: 2020 Page: 540-546
Author(s): Jiajia Zhou,Yi Chen,Fanxia Meng,Kan Zhang,Xiaoyan Liu,Guoping Peng

Genomics of Isolated Populations: Inferences for Gene-Finding Studies

Ebook: Anthropology: Current and Future Developments
Volume: 2 Year: 2016
Author(s): Manuela Lima
Doi: 10.2174/9781681083858116020008

Genetic Testing for Rare Genetic Disorders

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010005

Next-Generation Technologies for Rare Inherited Disorders

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010004

Perspective open access plus

Pearls from the First Gulf Cardiac Amyloidosis Summit 2021

Journal: New Emirates Medical Journal
Volume: 3 Issue: 1 Year: 2022 Page: 1-11
Author(s): Nishant R. Shah

Gene Polymorphisms, Mutations and Epigenetics in Heart Failure

Ebook: Frontiers in Heart Failure
Volume: 1 Year: 2016
Author(s): Daphne Koumbi,Constantina Sambani,George P. Patrinos,Panagoula Kollia
Doi: 10.2174/9781681083759116010008

Research Article

Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia orMalformations in Foetuses

Journal: Current Medical Imaging
Volume: 20 Issue: 1 Year: 2024 Page: 1-9
Author(s):

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