Suchergebnisse - "Shieh, Perry B"

PubPharm (116)

51

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2020

von Lee, H. | Huang, A. | Wang, L. | +29

52

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy : MOTOR trial

enthalten in: Neurology | 2020

von Madsen, K. | Buch, A. | Cohen, B. | +14

53

Deflazacort vs prednisone treatment for Duchenne muscular dystrophy : A meta-analysis of disease progression rates in recent multicenter clinical trials

enthalten in: Muscle & nerve | 2020

von McDonald, C. | Sajeev, G. | Yao, Z. | +10

54

RESTORE : A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

enthalten in: Journal of neuromuscular diseases | 2020

von Finkel, R. | Day, J. | De Vivo, D. | +14

55

The Last Mile : DSCSA Solution Through Blockchain Technology: Drug Tracking, Tracing, and Verification at the Last Mile of the Pharmaceutical Supply Chain with BRUINchain

enthalten in: Blockchain in healthcare today | 2020

von Chien, W. | de Jesus, J. | Taylor, B. | +4

56

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

enthalten in: Journal of neuromuscular diseases | 2020

von Glascock, J. | Sampson, J. | Connolly, A. | +11

57

RESTORE: a prospective multinational registry of patients with genetically confirmed spinal muscular atrophy - rationale and study design

sonderdruck aus: Journal of neuromuscular diseases | 2020

von Finkel, R. | Day, J. | DeVivo, D. | +14

58

Deflazacort vs prednisone treatment for Duchenne muscular dystrophy : A meta‐analysis of disease progression rates in recent multicenter clinical trials

enthalten in: Muscle & Nerve | 2020

von McDonald, C. | Sajeev, G. | Yao, Z. | +9

59

The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID‐19 pandemic

enthalten in: Muscle & Nerve | 2020

von Veerapandiyan, A. | Wagner, K. | Apkon, S. | +12

60

Myelopathy in a patient with leukodystrophy due to CSF1R mutation

enthalten in: Neurology. Genetics | 2019

von Ho, V. | Hovsepian, D. | Shieh, P.