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Neuromuscular Disorders : NMD|February 3, 1998
A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase lociN B Romero, D Récan, O Rigal, et al.Archives of Neurology|February 15, 2001
Recessive ataxia with ocular apraxia: review of 22 Portuguese patientsC Barbot, P Coutinho, R Chorão, et al.Nanotechnology|September 26, 2024
Selective area epitaxy of in-plane HgTe nanostructures on CdTe(001) substrateN Chaize, X Baudry, P-H Jouneau, et al.American Journal of Human Genetics|March 11, 2000
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesI Silveira, I Alonso, L Guimarães, et al.Nanotechnology|January 17, 2025
Selective area molecular beam epitaxy of InSb on InP(111)B: from thin films to quantum nanostructuresW Khelifi, P Capiod, C Barbot, et al.Nature Genetics|October 5, 2001
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxinM C Moreira, C Barbot, N Tachi, et al.Human Mutation|September 1, 2005
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese originL Vilarinho, M L Cardoso, P Gaspar, et al.Neurology|April 11, 2007
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutationsT Temudo, P Oliveira, M Santos, et al.Neurology|September 19, 2008
Neurodegeneration associated with genetic defects in phospholipase A(2)A Gregory, S K Westaway, I E Holm, et al.Archives of Neurology|April 10, 2002
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locusI Silveira, C Miranda, L Guimarães, et al.Pageof 5