Associated Papers
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM3_ESM.xlsx › Targeted_non-coding_variants
CD4+ T Cell Defects in a Mulibrey Patient With Specific TRIM37 Mutations.
Bruzzaniti S et al.
Frontiers in Immunology, 2020
Molecular Etiology Disclosed by Array CGH in Patients With Silver-Russell Syndrome or Similar Phenotypes.
Crippa M et al.
Frontiers in Genetics, 2019
TRIMming down to TRIM37: Relevance to Inflammation, Cardiovascular Disorders, and Cancer in MULIBREY Nanism.
Brigant B et al.
International Journal of Molecular Sciences, 2018
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Mozzillo E et al.
American Journal of Medical Genetics. Part A, 2016
Select a paper to view details