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Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Neuromuscular disorders : NMD 03, 2020 | Pubmed ID: 32008911
Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.
British journal of haematology 03, 2021 | Pubmed ID: 33528045
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Acta neuropathologica communications 09, 2021 | Pubmed ID: 34535181
University Grenoble Alpes, INSERM, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences
Mathilde Beaufils1,
Amandine Tourel1,
Anne Petiot1,
Nicole B. Halmai2,
Dave J. Segal2,
John Rendu1,
Isabelle Marty1
1, University Grenoble Alpes, INSERM, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences,
2Genome Center, University of California, Davis
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