Found: 15
Select item for more details and to access through your institution.
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The Challenge for a European Network of Biobanks for Rare Diseases Taken up by RD-Connect.
- Published in:
- Pathobiology, 2015, v. 81, n. 5/6, p. 231, doi. 10.1159/000358492
- By:
- Publication type:
- Article
The genetic counseling in a patient affected by congenital polyneuropathy after a "diagnostic odyssey" recently solved with WES approach.
- Published in:
- European Journal of Translational Myology, 2022, v. 32, n. 1, p. 1, doi. 10.4081/ejtm.2022.10361
- By:
- Publication type:
- Article
Retinoic acid-induced neuritogenesis of human neuroblastoma SH-SY5Y cells is ERK independent and PKC dependent.
- Published in:
- Journal of Neuroscience Research, 2004, v. 75, n. 2, p. 241, doi. 10.1002/jnr.10848
- By:
- Publication type:
- Article
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation: A morphological, genetic and spectroscopic study.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 12, p. 1498, doi. 10.1007/s00415-003-0246-6
- By:
- Publication type:
- Article
The 129 codon polymorphism of the Prion Protein gene influences earlier cognitive performance in Down syndrome subjects.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 6, p. 688, doi. 10.1007/S00415-003-1057-5
- By:
- Publication type:
- Article
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1116, doi. 10.1038/ejhg.2014.272
- By:
- Publication type:
- Article
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 896, doi. 10.1038/sj.ejhg.5201056
- By:
- Publication type:
- Article
Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Vascular endothelial growth factor gene variability is associated with increased risk for AD.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 373
- By:
- Publication type:
- Article
Skeletal muscle gene expression profiling in mitochondrial disorders.
- Published in:
- FASEB Journal, 2005, v. 19, n. 7, p. 866, doi. 10.1096/fj.04-3045fje
- By:
- Publication type:
- Article
Transplanted ALDH<sup>hi</sup>SSC<sup>lo</sup> neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 2, p. 167, doi. 10.1093/hmg/ddi446
- By:
- Publication type:
- Article
Molecular research technologies in mitochondrial diseases: The microarray approach.
- Published in:
- IUBMB Life, 2005, v. 57, n. 12, p. 811, doi. 10.1080/15216540500460269
- By:
- Publication type:
- Article
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions(Communicated by Christine van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #674 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/674.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 6, p. 498, doi. 10.1002/humu.9203
- By:
- Publication type:
- Article
A collection of 33 novel human mtDNA homoplasmic variants.
- Published in:
- Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9079
- By:
- Publication type:
- Article