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BMC Neurology|October 24, 2024
A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG studyE C M de Laat, S L S Houwen-van Opstal, K Bouman, et al.
The Journal of Clinical Endocrinology and Metabolism|July 15, 2011
Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndromeKim Freriks, Janneke Timmermans, Catharina C M Beerendonk, et al.
Orphanet Journal of Rare Diseases|March 6, 2020
Experienced complaints, activity limitations and loss of motor capacities in patients with pure hereditary spastic paraplegia: a web-based survey in the NetherlandsBas J H van Lith, Hans C J W Kerstens, Laura A C van den Bemd, et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|February 20, 2015
Recommendations and cardiological evaluation of athletes with arrhythmias: Part 1J Hoogsteen, J H Bennekers, E E van der Wall, et al.
BMC Health Services Research|May 10, 2025
What do patients and informal caregivers value in IBD care? A narrative inquiryBritt J M Thomassen, Evelien M B Hendrix, Zlatan Mujagic, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 3, 2006
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patientsRudy G E van Eijsden, Mike Gerards, Lars M T Eijssen, et al.
Journal of Medical Genetics|November 25, 2011
Defective NDUFA9 as a novel cause of neonatally fatal complex I diseaseB J C van den Bosch, M Gerards, W Sluiter, et al.
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