Results 111 to 120 of about 2,672 (146)

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report. [PDF]

Eur Heart J Case Rep
Zhang X, Luo Y, Zhao Y, Lu H, Ji X.
europepmc   +1 more source

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Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes

Neuromuscular Disorders, 2006
The sarcoglycanopathies are a group of autosomal recessive limb girdle muscular dystrophies (AR-LGMD 2) characterised by mutations in gene encoding one of the sarcoglycan subunits. Mutations in SGCA, SGCB, SGCG and SGCD genes are associated with LGMD 2D, 2E, 2C and 2F, respectively. We report three Tunisian patients belonging to the same consanguineous
M Kefi, F Hentati
exaly   +3 more sources

O-LGMD: An Opponent Colour LGMD-Based Model for Collision Detection with Thermal Images at Night

Lecture Notes in Computer Science, 2022
Yicheng Zhang, Jiannan Zhao, Mu Hua
exaly   +2 more sources

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Neuromuscular Disorders, 2018
Y.W. Da, Y.N. Sun, H. Chen, Y. lu, L. Di, X.M. Wen   +5 more
  +14 more sources

A Journey with LGMD: From Protein Abnormalities to Patient Impact

Protein Journal, 2021
Ali Mohajer, Chih-Kao Hu
exaly  

Current and Future Approaches to Classify VUSs in LGMD-Related Genes

Genes, 2022
Chengcheng Li, Gabe Haller, Conrad C Weihl   +2 more
exaly