Search Result "exomesequencing"
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):
Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa
Journal: Current Molecular Medicine
Volume: 18 Issue: 5 Year: 2018 Page: 287-294
Author(s): Z. Wu,M. Zhong,M. Li,H. Huang,J. Liao,A. Lu,K. Guo,N. Ma,J. Lin,J. Duan,L. Liu,F. Xu,Z. Zhong,J. Chen
Screening for Genetic Mutations Associated with Early-Onset AlzheimerâsDisease in Han Chinese
Journal: Current Alzheimer Research
Volume: 19 Issue: 10 Year: 2022 Page: 724-733
Author(s):
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
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
Future Strategies 2 â Genetic Perspectives â Counseling, Screening, Testing, Research, and Intervention
Ebook: Consanguinity - Its Impact, Consequences and Management
Volume: 1 Year: 2014
Author(s): Gabrielle J. Halpern,Lina Basel-Vanagaite,Lutfi Jaber
Doi: 10.2174/9781608058884114010012
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
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
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):
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