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Academic Journal

Multiple synostoses syndrome: Radiological findings and orthopedic management in a single institution cohort.

Subjects: HAND anatomy; MUSCULOSKELETAL system diseases; GENETIC mutation

  • Source: Journal of Pediatric Rehabilitation Medicine; 2021, Vol. 14 Issue 3, p361-369, 9p

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Academic Journal

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.

  • Authors : Mensch A; Department of Neurology, Martin Luther University Halle-Wittenberg and University Hospital Halle, Halle (Saale), Germany.; Cordts I

Subjects: Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/diagnosis ; Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/Glycogen Storage Disease Type II*/genetics ; Myasthenic Syndromes, Congenital*/Myasthenic Syndromes, Congenital*/Myasthenic Syndromes, Congenital*/diagnosis

  • Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2022; Vol. 9 (4), pp. 533-541.Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101649948 Publication Model: Print Cited Medium:

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  • 1-2 of  2 results for ""GENETIC testing""