Search Result "(HGMD)"


Approaches and Resources for Prediction of the Effects of Non-Synonymous Single Nucleotide Polymorphism on Protein Function and Interactions

Journal: Current Pharmaceutical Biotechnology
Volume: 9 Issue: 2 Year: 2008 Page: 123-133
Author(s): S. Teng, E. Michonova-Alexova, E. Alexov

Clinical Next Generation Sequencing for Precision Medicine in Cancer

Journal: Current Genomics
Volume: 16 Issue: 4 Year: 2015 Page: 253-263
Author(s): Ling Dong,Wanheng Wang,Alvin Li,Rina Kansal,Yuhan Chen,Hong Chen,Xinmin Li

Cutaneous Complications of Anderson-Fabry Disease

Journal: Current Pharmaceutical Design
Volume: 19 Issue: 3 Year: 2013 Page: 6031-6036
Author(s): Giuseppe Pistone, Daniele Rizzo, Maria Rita Bongiorno

Prediction and Functional Analysis of Single Nucleotide Polymorphisms

Journal: Current Drug Metabolism
Volume: 13 Issue: 7 Year: 2012 Page: 1012-1023
Author(s): Li Li,Qi Chen,Dong-Qing Wei

Research Article

Novel Somatic Mutations of the CDH1 Gene Associated with Gastric Cancer: Prediction of Pathogenicity Using Comprehensive In silico Methods

Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 17 Issue: 3 Year: 2020 Page: 182-196
Author(s): Payel Chakraborty,Souvik Ghatak,Ravi Prakash Yadav,Subhajit Mukherjee,Lalchhandama Chhakchhuak,Saia Chenkual,Thomas Zomuana,Sailo Tlau Lalruatfela,Arindam Maitra,Nachimuthu Senthil Kumar

Review Article

Computational Approaches for Investigating Disease-causing Mutations in Membrane Proteins: Database Development, Analysis and Prediction

Journal: Current Topics in Medicinal Chemistry
Volume: 22 Issue: 21 Year: 2022 Page: 1766-1775
Author(s): M. Michael Gromiha

Splicing Modulation Mediated by Small Nuclear RNAs as Therapeutic Approaches for Muscular Dystrophies

Journal: Current Gene Therapy
Volume: 12 Issue: 3 Year: 2012 Page: 179-191
Author(s): Rachid Benchaouir,Aurelie Goyenvalle

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

Endometrial Cancer as a Familial Tumor: Pathology and Molecular Carcinogenesis (Review)

Journal: Current Genomics
Volume: 10 Issue: 2 Year: 2009 Page: 127-132
Author(s): Kouji Banno, Megumi Yanokura, Yusuke Kobayashi, Makiko Kawaguchi, Hiroyuki Nomura, Akira Hirasawa, Nobuyuki Susumu, Daisuke Aoki

Approaching Inherited Disease on a Genomic Scale

Journal: Current Genomics
Volume: 6 Issue: 7 Year: 2005 Page: 545-549
Author(s): Jan Freudenberg, Ying-Hui Fu, Louis J. Ptacek

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