Search Result "autosomal recessive manner"
AAV-Mediated Gene Therapy in Mouse Models of Recessive Retinal Degeneration
Journal: Current Molecular Medicine
Volume: 12 Issue: 3 Year: 2012 Page: 316-330
Author(s): J.-J. Pang, L. Lei, X. Dai, W. Shi, X. Liu, A. Dinculescu, J. H. McDowell
PC9, A New Actor in Autosomal Dominant Hypercholesterolemia
Journal: Current Genomics
Volume: 6 Issue: 7 Year: 2005 Page: 535-543
Author(s): Delphine Allard, Marianne Abifadel, Jean-Pierre Rabes, Mathilde Varret
Molecular Genetics of Familial Exudative Vitreoretinopathy and Norrie Disease
Journal: Current Genomics
Volume: 1 Issue: 3 Year: 2000 Page: 259-269
Author(s): Barkur S. Shastry, Miki Hiraoka
Retinitis Pigmentosa: Genes and Disease Mechanisms
Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 238-249
Author(s): Francesco Parmeggiani, Francesco S. Sorrentino, Diego Ponzin, Vanessa Barbaro, Stefano Ferrari, Enzo Di Iorio
Lafora Progressive Myoclonus Epilepsy: Recent Insights into Cell Degeneration
Journal: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
Volume: 6 Issue: 2 Year: 2012 Page: 99-107
Author(s): Carlos Spuch,Saida Ortolano,Carmen Navarro
Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking
Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 260-266
Author(s): Alessandro Galan, Marzio Chizzolini, Elisabeth Milan, Adolfo Sebastiani, Ciro Costagliola, Francesco Parmeggiani
Evaluation of B Lymphocyte Deficiencies
Journal: Cardiovascular & Hematological Disorders-Drug Targets
Volume: 13 Issue: 2 Year: 2013 Page: 133-143
Author(s): John D. Vickery, Christie F. Michael, D. Betty Lew
Advances in the Molecular Genetics of Non-syndromic Syndactyly
Journal: Current Genomics
Volume: 16 Issue: 3 Year: 2015 Page: 183-193
Author(s): Hao Deng,Ting Tan
Gene-Based Therapies for Dominant Retinopathies
Journal: Current Gene Therapy
Volume: 10 Issue: 5 Year: 2010 Page: 381-388
Author(s): G. Jane Farrar, Arpad Palfi, Paul F.Kenna, Mary OReilly
Current Approaches to the Diagnosis of Classical form of Congenital Adrenal Hyperplasia
Journal: Recent Patents on Endocrine, Metabolic & Immune Drug Discovery
Volume: 9 Issue: 2 Year: 2015 Page: 103-110
Author(s): Elwira Przybylik-Mazurek,Anna Kurzynska,Anna Skalniak,Alicja Hubalewska-Dydejczyk