Search Result "monogenetic mutations"

Review Article

Familial Mutations and Post-translational Modifications of UCH-L1 in Parkinson's Disease and Neurodegenerative Disorders

Journal: Current Protein & Peptide Science
Volume: 18 Issue: 7 Year: 2017 Page: 733-745
Author(s): Yun-Tzai C. Lee,Shang-Te D. Hsu

Preimplantation, Prenatal, and Postnatal Diagnosis

Ebook: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
Volume: 1 Year: 2022
Author(s):
Doi: 10.2174/9789815079517122010006

Gene Therapy in Disorders of Lipoprotein Metabolism

Journal: Current Gene Therapy
Volume: 7 Issue: 1 Year: 2007 Page: 35-47
Author(s): Stefan F.C. Vaessen, Jaap Twisk, John J.P. Kastelein, Jan Albert Kuivenhoven

Review Article

Steroid-resistant Nephrotic Syndrome in Children: A Mini-review on Genetic Mechanisms, Predictive Biomarkers and Pharmacotherapy Strategies

Journal: Current Pharmaceutical Design
Volume: 27 Issue: 2 Year: 2021 Page: 319-329
Author(s): Hong-Li Guo,Ling Li,Ze-Yue Xu,Xia Jing,Ying Xia,Jin-Chun Qiu,Xing Ji,Feng Chen,Jing Xu,Fei Zhao

Prognostic Implications of Genetics in Cardiovascular Disease

Journal: Current Pharmacogenomics
Volume: 1 Issue: 4 Year: 2003 Page: 217-228
Author(s): Pieter A. Doevendans, Jasper van der Smagt, Peter Loh, Nicolaas de Jonge, Daniel J. Touw

Disorders of Mineral Metabolism in the Newborn

Journal: Current Pediatric Reviews
Volume: 10 Issue: 2 Year: 2014 Page: 133-141
Author(s): Shamir Tuchman

Use of Capillary Electrophoresis for High Throughput Screening in Biomedical Applications. A Minireview

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 3 Issue: 6 Year: 2000 Page: 455-466
Author(s): Anja-Katrin Bosserhoff, Claus Hellerbrand, Reinhard Buettner

The CNS Melanocortin System: A Biological Weapon Against the Threat of Obesity

Journal: Current Medicinal Chemistry - Central Nervous System Agents
Volume: 3 Issue: 3 Year: 2003 Page: 201-215
Author(s): M. M. Hagan, P. C. Chandler, P. K. Wauford

Gene Therapy for Familial Hypercholesterolemia

Journal: Current Pharmaceutical Design
Volume: 17 Issue: 2 Year: 2011 Page: 2575-2591
Author(s): Eline Van Craeyveld, Frank Jacobs, Stephanie C. Gordts, Bart De Geest

Towards Liver-Directed Gene Therapy for Crigler-Najjar Syndrome

Journal: Current Gene Therapy
Volume: 9 Issue: 2 Year: 2009 Page: 72-82
Author(s): Paula S. Montenegro Miranda, Piter J. Bosma

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