Search Result "hereditary disorder"


Genes Involved in Hereditary Hearing Impairment

Journal: Current Genomics
Volume: 4 Issue: 5 Year: 2003 Page: 379-415
Author(s): B. Haack, M. Pfister, N. Blin, S. Kupka

Introduction: Hereditary Hemorrhagic Telangiectasia as a Rare Disease

Journal: Current Pharmaceutical Design
Volume: 12 Issue: 1 Year: 2006 Page: 1171-1172
Author(s): Daina Erica, DOvidio Francesco, Sabba Carlo

Case Report

Autosomal Recessive Hereditary Spastic Paraplegia: A Rare Case of a Family with Phenotypic Variation

Journal: Current Pharmacogenomics and Personalized Medicine
Volume: 17 Issue: 3 Year: 2020 Page: 211-215
Author(s): Mor Saban,Tal Shachar

A New Therapeutic Strategy and Rehabilitation in Hereditary Collagen Diseases: Case Report

Journal: Clinical Immunology, Endocrine & Metabolic Drugs (Discontinued)
Volume: 2 Issue: 1 Year: 2015 Page: 56-58
Author(s): Angelo P. Amico,Ilaria Covelli,Marisa Megna,Pietro Fiore

Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies: From Gene Function to Associated Phenotypes

Journal: Current Molecular Medicine
Volume: 14 Issue: 8 Year: 2014 Page: 1009-1033
Author(s): D. Pareyson,P. Saveri,G. Piscosquito

Review Article

Leber's Hereditary Optic Neuropathy: Novel Views and Persisting Challenges

Journal: CNS & Neurological Disorders - Drug Targets
Volume: 16 Issue: 8 Year: 2017 Page: 927-935
Author(s): Jasna Jancic,Janko Samardzic,Stevan Stojanovic,Amalija Stojanovic,Ana Marija Milanovic,Blazo Nikolic,Nikola Ivancevic,Vladimir Kostic

Hereditary Rickets. How Genetic Alterations Explain the Biochemical and Clinical Phenotypes

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 13 Issue: 4 Year: 2013 Page: 324-334
Author(s): Anna Papadopoulou,Evaggelia Gole,Polyxeni Nicolaidou

The Hereditary Disease Array Group (HDAG) - Microarrays, Models and Mechanisms : A Collaboration Update

Journal: Current Genomics
Volume: 2 Issue: 3 Year: 2001 Page: 221-229
Author(s): Tim- Rasmus Kiehl, James M. Olson, Stefan M. Pulst

Neuromuscular Disorders in Left Ventricular Hypertrabeculation/Noncompaction

Journal: Current Pharmaceutical Design
Volume: 16 Issue: 2 Year: 2010 Page: 2895-2904
Author(s): Josef Finsterer, Claudia Stollberger, Giovanni Fazio

Case Report open access plus

Three Cases of Leber’s Hereditary Optic Neuropathy with Rapid Increase in Visual Acuity After Gene Therapy

Journal: Current Gene Therapy
Volume: 19 Issue: 2 Year: 2019 Page: 134-138
Author(s): Yong Zhang,Jia-jia Yuan,Hong-li Liu,Zhen Tian,Si-wei Liu,Bin Li

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