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1-3 of 3 results for NM-CGH

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Select article: An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Open access

Research article

First published 2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka [...]

Journal of Neuromuscular Diseases

Select article: A Large Deletion Affecting TPM3,Causing Severe Nemaline Myopathy

Open access

Research article

First published

A Large Deletion Affecting TPM3,Causing Severe Nemaline Myopathy

K. Kiiski, V-L. Lehtokari, A.Y. Manzur [...]

Journal of Neuromuscular Diseases

Select article: A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report

Open access

Case report

First published 2025-9

A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report

Milla Laarne, Ali Oghabian, Jenni Laitila [...]

Journal of Neuromuscular Diseases

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