Search Result "mutation"


Case Report

A Novel Compound Heterozygous Gene Mutation of Dolichol Kinase Deficiency (DOLK-CDG)

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 235-241
Author(s):

Research Article

Alz-Disc: A Tool to Discriminate Disease-causing and Neutral Mutations inAlzheimer's Disease

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 26 Issue: 4 Year: 2023 Page: 769-777
Author(s): S. Akila Parvathy Dharshini,M. Michael Gromiha

Meta-Analysis

Pharmacological Treatments for Congenital Myasthenic SyndromesCaused by COLQ Mutations

Journal: Current Neuropharmacology
Volume: 21 Issue: 7 Year: 2023 Page: 1594-1605
Author(s):

Research Article

Effects of SVEP1 on Lung Squamous Cell Carcinoma and its Association with Tumor Mutation Burden, Prognosis, and Immune Regulation

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 26 Issue: 2 Year: 2023 Page: 313-329
Author(s):

Research Article

KRAS Mutation Reduces Thymoquinone Anticancer Effects on Viability of Cells andApoptosis

Journal: Anti-Cancer Agents in Medicinal Chemistry
Volume: 23 Issue: 15 Year: 2023 Page: 1747-1753
Author(s):

Case Report open access plus

A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boywith Hypophosphatemic Rickets

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 9 Year: 2023 Page: 1235-1239
Author(s): Margherita Lucia De Bernardi,Matteo Della Monica

Review Article

Potential Phytochemicals for Prevention of Familial Breast Cancer withBRCA Mutations

Journal: Current Drug Targets
Volume: 24 Issue: 6 Year: 2023 Page: 521-531
Author(s): Aliasgar Fakruddin Shahiwala,Gazala Afreen Khan

Case Report

Splenic Gaucheroma Leading to Incidental Diagnosis of Gaucher Disease in a 46-Year-Old Man with a Rare GBA Mutation: A Case Report

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 2 Year: 2023 Page: 230-234
Author(s): Oktay Halit Aktepe,Selin Ardalı Düzgün,Serap Dökmeci Emre,Hatice Serap Sivri

Case Report

Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery

Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 23 Issue: 3 Year: 2023 Page: 409-414
Author(s):

Research Article open access plus

A Novel Tumor Mutation Burden Related lncRNA Signature Identified Prognosis and Tumor Immune Microenvironment Features in Clear CellRenal Cell Carcinoma

Journal: Combinatorial Chemistry & High Throughput Screening
Volume: 26 Issue: 0 Year: 2023 Page: 1-16
Author(s):

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