Found: 15
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Huntington's disease gene expansion associates with early onset nonprogressive chorea.
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- Movement Disorders, 2013, v. 28, n. 5, p. 684, doi. 10.1002/mds.25443
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- Publication type:
- Article
Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.
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- Rheumatology, 2014, v. 53, n. 8, p. 1533, doi. 10.1093/rheumatology/keu010
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- Article
Clinical and Molecular Characterization of Prader-Willi Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
The Wnt/β-catenin pathway in human fibrotic-like diseases and its eligibility as a therapeutic target.
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- Molecular & Cellular Therapies, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40591-015-0038-2
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- Publication type:
- Article
Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects.
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- Human Molecular Genetics, 2010, v. 19, n. 10, p. 1939, doi. 10.1093/hmg/ddq072
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- Publication type:
- Article
Growth rate and myofibroblast differentiation of desmoid fibroblast-like cells are modulated by TGF-β signaling.
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- Histochemistry & Cell Biology, 2019, v. 151, n. 2, p. 145, doi. 10.1007/s00418-018-1718-1
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- Publication type:
- Article
Two new large deletions of the AVPR2 gene causing nephrogenic diabetes insipidus and a review of previously published deletions.
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 10, p. 3705, doi. 10.1093/ndt/gfs359
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- Publication type:
- Article
Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.
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- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 2, p. 159, doi. 10.1515/jpem-2018-0388
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- Publication type:
- Article
A novel ABCC6 variant causative of pseudoxanthoma elasticum.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0062-x
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- Publication type:
- Article
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
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- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1173, doi. 10.1007/s11011-017-0010-8
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- Publication type:
- Article
An Italian Cohort Study Identifies Four New Pathologic Mutations in the ARSA Gene.
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- Journal of Molecular Neuroscience, 2013, v. 50, n. 2, p. 284, doi. 10.1007/s12031-013-0006-8
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- Publication type:
- Article
Two Novel Homozygous SACS Mutations in Unrelated Patients Including the First Reported Case of Paternal UPD as an Etiologic Cause of ARSACS.
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- Journal of Molecular Neuroscience, 2011, v. 43, n. 3, p. 346, doi. 10.1007/s12031-010-9448-4
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- Publication type:
- Article
Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.
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- Amino Acids, 2010, v. 38, n. 1, p. 65, doi. 10.1007/s00726-008-0205-8
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- Publication type:
- Article
Nuclear GSK-3β segregation in desmoid-type fibromatosis.
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- Histopathology, 2013, v. 62, n. 7, p. 1098, doi. 10.1111/his.12133
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- Publication type:
- Article
New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy.
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- Journal of Child Neurology, 2013, v. 28, n. 12, p. 1694, doi. 10.1177/0883073812462765
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- Publication type:
- Article