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1-10 of 576 results for compound mutation

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Select article: Complex medical history of a patient with a compound heterozygous mutation in C1QC

Open access

Case report

First published 2019-9

Complex medical history of a patient with a compound heterozygous mutation in C1QC

R Lubbers, L J J Beaart-van de Voorde, K van Leeuwen [...]

Lupus

Select article: Successful treatment of a patient with NSCLC carrying uncommon compound EGFR G719X and S768I mutations using osimertinib: A case report

Open access

Case report

First published 2020-6

Successful treatment of a patient with NSCLC carrying uncommon compound EGFR G719X and S768I mutations using osimertinib: A case report

Yangyang Cai, Yizhuo Wang, Jingnan Sun [...]

Journal of International Medical Research

Select article: A rare epidermal growth factor receptor T790M/cis-C797S/L718Q compound mutation in a lung adenocarcinoma patient who did not derive any benefit from combination therapy with afatinib and bevacizumab

Open access

Case report

First published 2025

A rare epidermal growth factor receptor T790M/cis-C797S/L718Q compound mutation in a lung adenocarcinoma patient who did not derive any benefit from combination therapy with afatinib and bevacizumab

Xiaopeng Meng, Jingyi Liu, Xiaohui Wu [...]

Sage Open Medical Case Reports

Select article: Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta

Retricted access

Research article

First published 2013-7

Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta

B. Gasse, E. Karayigit, E. Mathieu [...]

Journal of Dental Research

Select article: Factor VII Deficiency due to Compound Heterozygosity for Leu-48Pro Mutation and a Novel Pro260Leu Mutation

Free access

Research article

First published 2011-11

Factor VII Deficiency due to Compound Heterozygosity for Leu-48Pro Mutation and a Novel Pro260Leu Mutation

N. Kogiso, M. Taki, O. Takamiya

Clinical and Applied Thrombosis/Hemostasis

Select article: Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2 -Linked Disease

Retricted access

Research article

First published 2016-8

Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2 -Linked Disease

Melissa A. Walker, Kyle P. Mohler, Kyle W. Hopkins [...]

Journal of Child Neurology

Select article: Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations

Retricted access

Research article

First published 2015-5

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations

Y. Xue, L. Wang, D. Xia [...]

Journal of Dental Research

Select article: A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype

Open access

Research article

First published 2011-2

A Novel Compound Heterozygous Tyrosine Hydroxylase Mutation (p.R441P) with Complex Phenotype

Kristoffer Haugarvoll, Laurence A. Bindoff

Journal of Parkinson’s Disease

Select article: Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation

Retricted access

Research article

First published 2018-4-10

Frontotemporal Dementia and Chorea Associated with a Compound Heterozygous TREM2 Mutation

Veronica Redaelli, Ettore Salsano, Lara Colleoni [...]

Journal of Alzheimer’s Disease

Select article: A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa

Retricted access

Research article

First published 2023-08

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa

Chao Dai, Weiming Ren, Yao Wei [...]

Genetic Testing and Molecular Biomarkers

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