Showing results (641-650 of 712) with videos related to
Sort By:
Pageof 72
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.Biochimica Et Biophysica Acta|July 17, 2012
Patient-derived fibroblasts indicate oxidative stress status and may justify antioxidant therapy in OXPHOS disordersA M Voets, P J Lindsey, S J Vanherle, et al.Arthritis and Rheumatism|August 9, 2003
Rheumatoid arthritis is a heterogeneous disease: evidence for differences in the activation of the STAT-1 pathway between rheumatoid tissuesTineke C T M van der Pouw Kraan, Floris A van Gaalen, Pia V Kasperkovitz, et al.Journal of Medical Genetics|June 23, 2009
Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndromeM Gerards, W Sluiter, B J C van den Bosch, et al.JIMD Reports|March 4, 2015
Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial MyopathyI M L W Körver-Keularts, M de Visser, H D Bakker, et al.Journal of Medical Genetics|May 6, 2008
Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A > G tRNA(Leu) mutationR G E van Eijsden, L M T Eijssen, P J Lindsey, et al.Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation|May 3, 2011
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathyA van den Wijngaard, P Volders, J P Van Tintelen, et al.Journal of Medical Genetics|January 23, 2013
Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and successSuzanne C E H Sallevelt, Joseph C F M Dreesen, Marion Drüsedau, et al.Human Reproduction (Oxford, England)|June 1, 2018
Mutation-specific effects in germline transmission of pathogenic mtDNA variantsAuke B C Otten, Suzanne C E H Sallevelt, Phillippa J Carling, et al.Clinical Rehabilitation|January 23, 2026
Test-retest reliability and responsiveness of the Self-Regulation Assessment in a rehabilitation population: A prospective multicentre validation studyB M P Mourits, E W M Scholten, J A de Graaf, et al.Pageof 72