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Articles (756)

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1-10 of 756 results for genetic mutations in humans

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Select article: Identification of Genetic Mutations in Human Lung Cancer by Targeted Sequencing

Open access

Research article

First published 2015

Identification of Genetic Mutations in Human Lung Cancer by Targeted Sequencing

Hongxiang Feng, Xiaowei Wang, Zhenrong Zhang [...]

Cancer Informatics

Select article: Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy

Retricted access

Product review

First published 2022-7

Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy

Stefan Timmermans

Contemporary Sociology: A Journal of Reviews

Select article: Genetic Mutations Resulting in Loss of Aromatase Activity in Humans and Mice

Retricted access

Research article

First published 2000-1

Genetic Mutations Resulting in Loss of Aromatase Activity in Humans and Mice

Evan R. Simpson

Reproductive Sciences

Select article: Ancestral Trees for Modeling Stem Cell Lineages Genetically Rather Than Functionally: Understanding Mutation Accumulation and Distinguishing the Restrictive Cancer Stem Cell Propagation Theory and the Unrestricted Cell Propagation Theory of Human Tumorigenesis

Free access

Research article

First published 2008-10-31

Ancestral Trees for Modeling Stem Cell Lineages Genetically Rather Than Functionally: Understanding Mutation Accumulation and Distinguishing the Restrictive Cancer Stem Cell Propagation Theory and the Unrestricted Cell Propagation Theory of Human Tumorigenesis

Darryl K. Shibata, Scott E. Kern

Breast Disease

Select article: Diagnosing the dead: the retrospective analysis of genetic diseases

Retricted access

Research article

First published 2013-3

Diagnosing the dead: the retrospective analysis of genetic diseases

AR Rushton

Journal of the Royal College of Physicians of Edinburgh

Select article: Clinical Genetic Testing in Epilepsy

Free access

Review article

First published 2015-7

Clinical Genetic Testing in Epilepsy

Heather C. Mefford

Epilepsy Currents

Select article: p.Ala546 > Asp and p.Arg555 > Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I

Retricted access

Research article

First published 2008-09

p.Ala546 > Asp and p.Arg555 > Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I

Ping Yu, Yangshun Gu, Fan Jin [...]

Genetic Testing and Molecular Biomarkers

Select article: Ion Channels and the Genetic Contribution to Epilepsy

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Other

First published 1999-01

Ion Channels and the Genetic Contribution to Epilepsy

Stephen G. Ryan

Journal of Child Neurology

Select article: Parkinson's disease associated with LRRK2 -R1441C mutation: Characterization and comparison with other LRRK2 mutations

Open access

Research article

First published 2025-8

Parkinson's disease associated with LRRK2 -R1441C mutation: Characterization and comparison with other LRRK2 mutations

Rafi Hadad, Roy N Alcalay, Inna Senderova [...]

Journal of Parkinson’s Disease

Select article: From Bedside to Bench and Back: Advancing Our Understanding of the Pathophysiology of Cleft Palate and Implications for the Future

Retricted access

Research article

First published 2024-5

From Bedside to Bench and Back: Advancing Our Understanding of the Pathophysiology of Cleft Palate and Implications for the Future

Eloise Stanton, Samuel Sheridan, Mark Urata [...]

The Cleft Palate Craniofacial Journal

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