Search Result "Rare inherited diseases."


Next-Generation Technologies for Rare Inherited Disorders

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010004

Inherited Renal Diseases

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

Review Article open access plus

NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment

Journal: Current Medicinal Chemistry
Volume: 25 Issue: 3 Year: 2018 Page: 404-432
Author(s): Ana Fernandez-Marmiesse,Sofia Gouveia,Maria L. Couce

Review Article

Global View on Rare Diseases: A Mini Review

Journal: Current Medicinal Chemistry
Volume: 24 Issue: 29 Year: 2017 Page: 3153-3158
Author(s): Blanka Klimova,Michael Storek,Martin Valis,Kamil Kuca

Proteomics as Applied to Inherited Metabolic Diseases

Journal: Current Proteomics
Volume: 6 Issue: 3 Year: 2009 Page: 140-153
Author(s): Eva Richard, Alejandra Gamez, Pedro Ruiz-Sala, Belen Perez, Lourdes R. Desviat, Magdalena Ugarte

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

AMPK As A Target in Rare Diseases

Journal: Current Drug Targets
Volume: 17 Issue: 8 Year: 2016 Page: 921-931
Author(s):

Pharmacological Targeting in Inherited Arrhythmia Syndromes

Journal: Current Medicinal Chemistry
Volume: 21 Issue: 11 Year: 2014 Page: 1308-1319
Author(s): S. Zumhagen,N. Strutz-Seebohm,G. Seebohm,E. Schulze-Bahr

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

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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