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Retricted access

Research article

First published 2021-5

A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family

Yanan Ji, Xiangyu Zhao, Juanmei Zhang [...]

European Journal of Ophthalmology

Open access

Research article

First published 2022-10

Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences

Armaghan Alam, Maksim Parfyonov, Camille Y. Huang [...]

Journal of Child Neurology

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Research article

First published 2017-9

Association of NOD2 Mutations with Aggressive Periodontitis

T. Sudo, Y. Okada, K. Ozaki [...]

Journal of Dental Research

Free access

Review article

First published

Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis

Valérie Biancalana, Jocelyn Laporte

Journal of Neuromuscular Diseases

Free access

Research article

First published 2017

Early-Onset Myopathies: Clinical Findings,Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany

K. Vill, A. Blaschek, D. Gläser [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2016

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

Jaya Punetha, Akanchha Kesari, Prech Uapinyoying [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2024

Targeting mTOR signaling for the treatment of intrahepatic cholangiocarcinoma with TSC1/ARID1A mutations: a case report with an unexpected response

Clémentine Daugan, Romain Boidot, François Ghiringhelli [...]

Therapeutic Advances in Medical Oncology

Open access

Research article

First published 2020

Use of patient derived orthotopic xenograft models for real-time therapy guidance in a pediatric sporadic malignant peripheral nerve sheath tumor

Juana Fernández-Rodríguez, Andrés Morales La Madrid, Bernat Gel [...]

Therapeutic Advances in Medical Oncology

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Review article

First published 2020-02

Applications of Next-Generation Sequencing in Neoantigen Prediction and Cancer Vaccine Development

Elizabeth M. Lancaster, David Jablons, Johannes R. Kratz

Genetic Testing and Molecular Biomarkers

Open access

Review article

First published 2014

Review of Current Methods,Applications,and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing

Riyue Bao, Lei Huang, Jorge Andrade [...]

Cancer Informatics

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