Search results for mutations

Page 8 of 40

• Journal of Rare Disorders: Diagnosis & Therapy

  Pulmonary Manifestations and the Effectiveness of Enzyme replacement in Fabry Disease with the p.R227X Mutation

  Author(s): Päivi Pietilä-Effati^1*,  Johan Söderström² , Jukka T. Saarinen³, Eliisa Löyttyniemi⁴, Ilkka Kantola⁵

  Abstract | Full-Text |   PDF

• Journal of Stem Cell Biology and Transplantation

  Evaluation of anti-aging effects of vitamins in Drosophila

  Author(s): Kirtypal Singh

  Abstract |   PDF

• Journal of Pharmacy and Pharmaceutical Research

  The Association of Endoplasmic Reticulum Stress Response and Clearance Pathways with Trafficking Deficiency of HERG Mutation and Pharmacological Rescue

  Author(s): Lian JF

  Abstract |   PDF

• Journal of Neurology and Neuroscience

  A new rare homozygous mutation in the POLR3A gene causes ataxo-spasmodic leukodystrophy

  Author(s): Ouardia Belarbi 1, Hakim Si Ahmed 1, Smail Daoudi 1, Pierre Labauge 2, Carra Dallier Clarisse 2,
  Schmitt Perrine 2, Sanchez Pauline 2, Séverine Drunate 3, Hélène Cavé3

  Abstract | Full-Text |   PDF

• Archives of Clinical Microbiology

  Effectiveness of Retreatment with ombitasvir/paritaprevir/ ritonavir, dasabuvir+sofosbuvir+ribavirin in Patients with Chronic Hepatitis C, Subtype 1b and Cirrhosis, Who Failed Previous with First- and Second-generation NS5A Inhibitors

  Author(s): Sergii V. Fedorchenko*, Tatiana Martynovych, Zhanna Klimenko and Iryna Soliank

  Abstract | Full-Text |   PDF

• Head and Neck Cancer Research

  An Abnormal Cell Growth in Mouth: A Brief on Oral Cancer

  Author(s):       Jiade J. Lu*

  Abstract | Full-Text |   PDF

• Genetics and Molecular Biology Research

  Cancer's Signs and Symptoms Vary Depending on Which Region of the Body is Impacted

  Author(s): Adams Lewis

  Abstract | Full-Text |   PDF

• Journal of Emergency and Internal Medicine

  The Cystinuria Cardiovascular Epidemiology

  Author(s): Peterchris Okpala* and Sandra Okpala

  Abstract | Full-Text |   PDF

• Research Journal of Congenital Diseases

  Fitness-2015: Influence of the energy balance in obesity and overweight of the children and adolescents with Down syndrome of the APAE of the Ipatinga-MG, 2008: Lana Claudia Silva

  Author(s): Lana Claudia Silva

  Abstract |   PDF

• Health Science Journal

  Genom and Gene Mutation of SARS-CoV-2

  Author(s): Edy Parwanto

  Abstract | Full-Text |   PDF

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