Search Result "pedigree analysis"


Review Article

Novel Mutation of the NOTCH3 Gene in a Chinese Pedigree with CADASIL

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 16 Issue: 1 Year: 2017 Page: 30-35
Author(s): Xiaoxia Hou,Chuan He,Qingwen Jin,Qi Niu,Guang Ren,Hong Cheng

Research Article

The Mitochondrial tRNAHis G12192A Mutation May Modulate the Clinical Expression of Deafness-Associated tRNAThr G15927A Mutation in a Chinese Pedigree

Journal: Current Molecular Medicine
Volume: 19 Issue: 2 Year: 2019 Page: 136-146
Author(s): Yu Ding,Yao-Shu Teng,Guang-Chao Zhuo,Bo-Hou Xia,Jian-Hang Leng

Genetic Transmission of Cytochrome P450 2D6 (CYP2D6) Ultrarapid Metabolism: Implications for Breastfeeding Women taking Codeine

Journal: Current Drug Safety
Volume: 6 Issue: 1 Year: 2011 Page: 36-39
Author(s): Parvaz Madadi, Catherine Ciszkowski, Andrea Gaedigk, J. Steven Leeder, Ronni Teitelbaum, David Chitayat, Gideon Koren

Short Communication

Risk Prediction of Type 2 Diabetes Mellitus (T2DM) in Indian FamiliesUsing Antioxidant Gene Variants

Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 19 Issue: 2 Year: 2022 Page: 100-111
Author(s): Atar Singh Kushwah

Research Article

Cytokine Gene Variants as Predictors of Type 2 Diabetes Mellitus

Journal: Current Diabetes Reviews
Volume: 14 Issue: 3 Year: 2018 Page: 307-319
Author(s): Madhukar Saxena,Neena Srivastava,Monisha Banerjee

Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation

Journal: Current Medicinal Chemistry
Volume: 15 Issue: 1 Year: 2008 Page: 1257-1262
Author(s): Anita Maasz, Katalin Komlosi, Kinga Hadzsiev, Zsolt Szabo, Patrick J. Willems, Imre Gerlinger, Gyorgy Kosztolanyi, Karoly Mehes, Bela Melegh

Current State of Development of Genome Analysis in Livestock

Journal: Current Genomics
Volume: 4 Issue: 6 Year: 2003 Page: 487-525
Author(s): Tanja Kutzer, Tosso Leeb, Bertram Brenig

Research Article

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

Obesity and Diabetes Gene Discovery Approaches

Journal: Current Pharmaceutical Design
Volume: 9 Issue: 1 Year: 2003 Page: 1357-1372
Author(s): K. Walder, D. Segal, J. Jowett, J. Blangero, G. R. Collier

Clinical and Genetic Aspects of the Joubert Syndrome: a Disorder Characterised by Cerebellar Vermian Hypoplasia and Accompanying Brainstem Malformations

Journal: Current Genomics
Volume: 4 Issue: 2 Year: 2003 Page: 123-129
Author(s): C. L. Bennett, J. Meuleman, P. F. Chance, I. A. Glass

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