Search Result "autosomal recessive inherited deficiency"


Review Article

Current and Promising Therapies in Autosomal Recessive Ataxias

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 17 Issue: 3 Year: 2018 Page: 161-171
Author(s): Vincent Picher-Martel,Nicolas Dupre

Inherited Renal Diseases

Journal: Current Pediatric Reviews
Volume: 10 Issue: 2 Year: 2014 Page: 95-100
Author(s): Jocelyn C. Leung

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

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

Inherited Coagulation Factor VII and X Deficiencies Associated with Severe Bleeding Diathesis: Molecular Genetics and Pathophysiology

Journal: Current Genomics
Volume: 6 Issue: 6 Year: 2005 Page: 383-400
Author(s): K. Borensztajn, C. A. Spek

Genetics of Primary CoQ10 Deficiency

Journal: Current Genomics
Volume: 7 Issue: 6 Year: 2006 Page: 343-349
Author(s): A. B. Naini, C. M. Quinzii, P. Navas, S. DiMauro, M. Hirano

Molecular Mechanisms of Inherited Arrhythmias

Journal: Current Genomics
Volume: 9 Issue: 3 Year: 2008 Page: 160-168
Author(s): Cordula M. Wolf, Charles I. Berul

Electrophysiology Testing in Patients with Inherited Retinal Disease

Ebook: Diagnostic Technologies in Ophthalmology
Volume: 1 Year: 2012
Author(s): V.A. McBain
Doi: 10.2174/978160805133511201010238

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

Preclinical Studies on Specific Gene Therapy for Recessive Retinal Degenerative Diseases

Journal: Current Gene Therapy
Volume: 10 Issue: 5 Year: 2010 Page: 389-403
Author(s): Knut Stieger, Christine Chauveau, Fabienne Rolling

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