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Neuromuscular Disorders : NMD
|
March 26, 2026
Phenotypic characterization of dominantly inherited distal nebulin myopathy
Franclo Henning, Kireshnee Naidu, Pearl Thomas, et al.
Plos One
|
December 6, 2018
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, et al.
Neuromuscular Disorders : NMD
|
December 24, 2023
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
Vilma-Lotta Lehtokari, Lydia Sagath, Mark Davis, et al.
European Journal of Human Genetics : EJHG
|
June 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathy
Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
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of 2
Search research articles
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Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Neuromuscular Disorders : NMD
|
March 26, 2026
Phenotypic characterization of dominantly inherited distal nebulin myopathy
Franclo Henning, Kireshnee Naidu, Pearl Thomas, et al.
Plos One
|
December 6, 2018
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, et al.
Neuromuscular Disorders : NMD
|
December 24, 2023
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy
Vilma-Lotta Lehtokari, Lydia Sagath, Mark Davis, et al.
European Journal of Human Genetics : EJHG
|
June 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
January 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathy
Liedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Genome Research
|
March 26, 2025
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Wouter Steyaert, Lydia Sagath, German Demidov, et al.
Nature Genetics
|
September 9, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease
Vicente A Yépez, German Demidov, Kornelia Ellwanger, et al.
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of 2