Results 121 to 130 of about 24,019 (217)

Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report [PDF]

open access: gold, 2023
Patricia Guevara‐Ramírez   +9 more
openalex   +1 more source

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene [PDF]

open access: bronze, 2004
David B. Savage   +12 more
openalex   +1 more source

PO-01-170 A NOVEL LMNA MUTANT (R225X) LEADS TO CARDIAC CONDUCTION DISORDERS [PDF]

open access: bronze
Tingting Li   +6 more
openalex   +1 more source

Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death

open access: yesFrontiers in Genetics
Introduction:LMNA splicing mutations occur in 9.1% of cases with cardiac involvement cases, but the phenotype and severity of disease they cause have not yet been systematically studied. The aim of this study was to understand the clinical and pathogenic
Xuebin Ling   +12 more
doaj   +1 more source

International retrospective natural history study of LMNA-related congenital muscular dystrophy [PDF]

open access: gold, 2021
Rabah Ben Yaou   +43 more
openalex   +1 more source

Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation [PDF]

open access: diamond, 2008
Patrícia B. Mory   +5 more
openalex   +1 more source

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