Search Result "monogenic disorders"


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

Genetics and Mitochondrial Abnormalities in Autism Spectrum Disorders:A Review

Journal: Current Genomics
Volume: 12 Issue: 5 Year: 2011 Page: 322-332
Author(s): Sukhbir Dhillon, Jessica A. Hellings, Merlin G. Butler

Human Embryonic Stem Cell Therapies for Neurodegenerative Diseases

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 10 Issue: 4 Year: 2011 Page: 440-448
Author(s): Eva Tomaskovic-Crook, Jeremy M. Crook

Cystic Fibrosis and the Innate Immune System: Therapeutic Implications

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 11 Issue: 1 Year: 2011 Page: 8-22
Author(s): Massimo Conese

Hypocholesterolemia

Journal: Current Vascular Pharmacology
Volume: 9 Issue: 2 Year: 2011 Page: 200-212
Author(s): Elisavet Moutzouri, Moses Elisaf, Evangelos N. Liberopoulos

Recent Developments in Therapeutic Approaches for Lysosomal Storage Diseases

Journal: Recent Patents on CNS Drug Discovery (Discontinued)
Volume: 6 Issue: 1 Year: 2011 Page: 1-19
Author(s): Lorena Urbanelli, Alessandro Magini, Alice Polchi, Mario Polidoro, Carla Emiliani

Targeting the Central Nervous System with Herpes Simplex Virus / Sleeping Beauty Hybrid Amplicon Vectors

Journal: Current Gene Therapy
Volume: 11 Issue: 5 Year: 2011 Page: 332-340
Author(s): Suresh de Silva, William J. Bowers

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

Journal: Current Genomics
Volume: 12 Issue: 4 Year: 2011 Page: 267-275
Author(s): Susie Chang, Leah Vaccarella, Sunday Olatunji, Colleen Cebulla, John Christoforidis

Intraocular Immune Mechanisms in Uveitis

Journal: Current Immunology Reviews
Volume: 7 Issue: 3 Year: 2011 Page: 350-359
Author(s): S. John Curnow, Alastair K.O. Denniston, Philip I. Murray, Graham R. Wallace

Hypomagnesaemia/Hypokalemia Associated with the Use of Esomeprazole

Journal: Current Drug Safety
Volume: 6 Issue: 3 Year: 2011 Page: 204-206
Author(s): Armando L. Negri, Elisa E. del Valle

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