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Research article

First published 2021-07-30

Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort

Divya Nagabushana, Kiran Polavarapu, Mainak Bardhan [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2018-12-20

Japanese pathogenic variant database: DPV

Hisato Suzuki, Kenji Kurosawa, Keiichi Fukuda [...]

Translational Science of Rare Diseases

Retricted access

Research article

First published 2017-2

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

K.D. Khandelwal, N. Ishorst, H. Zhou [...]

Journal of Dental Research

Retricted access

Research article

First published 2026

Genetic Evaluation in Symptomatic Spontaneous Isolated Superior Mesenteric Artery Dissection

Xiaoming Xie, Runze Jiao, Feng Chen [...]

Angiology

Open access

Research article

First published 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants

Emily P. McCann, Natalie Grima, Jennifer A. Fifita [...]

Journal of Neuromuscular Diseases

Retricted access

Research article

First published 2024

Is tumour sequencing effective for the identification of germline BRCA1/2 pathogenic variant carriers?

Jacopo Azzollini, Iolanda Capone, Matteo Duca [...]

Tumori Journal

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Research article

First published 2010-10

PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

Priscilla H. Fernandes, Shu Wen, Vernon Reid Sutton [...]

Genetic Testing and Molecular Biomarkers

Open access

Review article

First published 2020-3

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

Hannah C. Happ, Gemma L. Carvill

Epilepsy Currents

Retricted access

Research article

First published 2018-09

Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease

Abdulrahman Alsultan, Ahmed M. Al-Suliman, Aamer Aleem [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Review article

First published 2018-11

Etiology and Pathogenesis of Hemifacial Microsomia

Q. Chen, Y. Zhao, G. Shen [...]

Journal of Dental Research

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