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First published 2007-08

Spinal Muscular Atrophy Diagnostics

Thomas W. Prior

Journal of Child Neurology

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Research article

First published 2006-09

Quantitative Multiplex Real-Time PCR for Detection of PLP1 Gene Duplications in Pelizaeus–Merzbacher Patients

Emilie Mikešová, Lucia Baránková, Iva Sakmaryová [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 1980-3

Synthesis of Interferon-Induced Polypeptides in Normal and Chromosome 21-Aneuploid Human Fibroblasts: Relationship to Relative Sensitivities in Antiviral Assays

Jon Weil, Lois B. Epstein, Charles J. Epstein

Journal of Interferon & Cytokine Research

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Research article

First published 2019-11

A robust and powerful test for case–control genetic association study on X chromosome

Peng Wang, Si-Qi Xu, Bei-Qi Wang [...]

Statistical Methods in Medical Research

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Research article

First published 2008-09

Multiple De Novo Mutations in the MECP2 Gene

David J. Bunyan, David O. Robinson

Genetic Testing and Molecular Biomarkers

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Research article

First published 2003-06

A Rapid and Definitive Test for Charcot-Marie-Tooth 1A and Hereditary Neuropathy with Liability to Pressure Palsies Using Multiplexed Real-Time PCR

P. Lorentzos, T. Kaiser, M.L. Kennerson [...]

Genetic Testing and Molecular Biomarkers

Open access

Case report

First published 2018

Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) With Vincristine

Roopam Jariwal, Basel Shoua, Katayoun Sabetian [...]

Journal of Investigative Medicine High Impact Case Reports

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Research article

First published 2012-9

Novel Diagnostic Paradigms for Friedreich Ataxia

Karlla W. Brigatti, Eric C. Deutsch, David R. Lynch [...]

Journal of Child Neurology

Open access

Research article

First published 2020-2

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

Siyue Liu, Libin Yan, Xinrong Zhou [...]

Journal of International Medical Research

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Other

First published 2008-02

Dosage Effect of a Dominant CLCN1 Mutation: A Novel Syndrome

Geneviève Bernard, Chantal Poulin, Jack Puymirat [...]

Journal of Child Neurology

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