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Retricted access

Case report

First published 2017-10-17

Neonatal complex arrhythmias possibly related to a TTN mutation

William N. Evans, Ruben J. Acherman, Ian H. Law [...]

Journal of Neonatal-Perinatal Medicine

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Research article

First published 1998-11

The Extracellular Thyrotropin Receptor Domain Is Not a Major Candidate for Mutations in Toxic Thyroid Nodules

Dagmar Führer, Constanze Kubisch, Ursula Scheibler [...]

Thyroid®

Open access

Review article

First published 2016-8-30

Increasing Role of Titin Mutations in Neuromuscular Disorders

Marco Savarese, Jaakko Sarparanta, Anna Vihola [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2020-1

Megaesophagus Is a Major Pathological Condition in Rats With a Large Deletion in the Rbm20 Gene

Denise J. Schwahn, Jonathan M. Pleitner, Marion L. Greaser

Veterinary Pathology

Open access

Research article

First published 2024-11

Mutational and clinical spectrum of myofibrillar myopathy in one center from China

Qi Wang, Peng Sun, Meng Yu [...]

Journal of Neuromuscular Diseases

Open access

Research article

First published 2025-5

Titinopathies: Phenotype – genotype heterogeneity in an Indian cohort

Dipti Baskar, Seena Vengalil, Kiran Polavarapu [...]

Journal of Neuromuscular Diseases

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Research article

First published 2021-7

New insights into hallux valgus by whole exome sequencing study

Jun Jia, Junyi Li, Huiqi Qu [...]

Experimental Biology and Medicine

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Research article

First published 2021-03

Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?

Louis Januel, Valérie Chanavat, Pierre-Antoine Rollat-Farnier [...]

DNA and Cell Biology

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

Review article

First published 2018

Centronuclear myopathies under attack: A plethora of therapeutic targets

Hichem Tasfaout, Belinda S. Cowling, Jocelyn Laporte

Journal of Neuromuscular Diseases

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