Found: 27
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Novel spondyloepimetaphyseal dysplasia due to <italic>UFSP2</italic> gene mutation.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 3, p. 671, doi. 10.1111/cge.13134
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- Publication type:
- Article
Increased CD1D polymorphism: identification of two novel alleles, CD1D*03 and *04, in individuals from Morocco.
- Published in:
- International Journal of Immunogenetics, 2015, v. 42, n. 4, p. 287, doi. 10.1111/iji.12210
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- Publication type:
- Article
Functional characterization of the c. 462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 1, p. 99, doi. 10.1111/cge.12248
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- Publication type:
- Article
The effectiveness of domestic cook on inactivation of murine norovirus in experimentally infected Manila clams ( Ruditapes philippinarum).
- Published in:
- Journal of Applied Microbiology, 2014, v. 116, n. 1, p. 191, doi. 10.1111/jam.12346
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- Publication type:
- Article
De novo 13q31.1-q32.1 interstitial deletion encompassing the miR-17-92 cluster in a patient with Feingold syndrome-2.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 894, doi. 10.1002/ajmg.a.35781
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- Publication type:
- Article
ADAR2-editing activity inhibits glioblastoma growth through the modulation of the CDC14B/Skp2/p21/p27 axis.
- Published in:
- Oncogene, 2013, v. 32, n. 8, p. 998, doi. 10.1038/onc.2012.125
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- Publication type:
- Article
Stüve–Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 3, p. 266, doi. 10.1111/j.1399-0004.2009.01314.x
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- Publication type:
- Article
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.
- Published in:
- 2009
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- Publication type:
- Letter
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
- Published in:
- Human Mutation, 2008, v. 29, n. 6, p. E27, doi. 10.1002/humu.20753
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- Publication type:
- Article
OTHER LYSOSOMAL STORAGE DISEASES.
- Published in:
- Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x
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- Publication type:
- Article
Unnecessary Milk Elimination Diets in Children with Atopic Dermatitis.
- Published in:
- Pediatric Dermatology, 2007, v. 24, n. 1, p. 1, doi. 10.1111/j.1525-1470.2007.00323.x
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- Publication type:
- Article
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
- Published in:
- Human Mutation, 2006, v. 27, n. 6, p. 600, doi. 10.1002/humu.9426
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- Publication type:
- Article
Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.
- Published in:
- Clinical Endocrinology, 2005, v. 63, n. 1, p. 19, doi. 10.1111/j.1365-2265.2005.02292.x
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- Publication type:
- Article
Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.
- Published in:
- Child: Care, Health & Development, 2005, v. 31, n. 3, p. 351, doi. 10.1111/j.1365-2214.2005.00514.x
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- Publication type:
- Article
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
- Published in:
- Clinical Genetics, 2005, v. 67, n. 3, p. 261, doi. 10.1111/j.1399-0004.2004.00402.x
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- Publication type:
- Article
Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1.
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 105, doi. 10.1002/humu.9258
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- Publication type:
- Article
Aspermia and chronic testicular pain after imperforate anus correction. Cryopreservation of sperm cells extracted from whole orchiectomized testis: case report.
- Published in:
- 2002
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- Publication type:
- journal article
Monozygotic twins with X-linked adrenoleukodystrophy and different phenotypes.
- Published in:
- 2001
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- Publication type:
- case study
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 3, p. 411, doi. 10.1023/A:1010525206818
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- Publication type:
- Article
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation.
- Published in:
- European Journal of Endocrinology, 2001, v. 144, n. 4, p. 409, doi. 10.1530/eje.0.1440409
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- Publication type:
- Article
Osteopetrorickets: case report.
- Published in:
- 2000
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- Publication type:
- journal article
Carbohydrate-deficient glycoprotein syndromes: The Italian experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 391, doi. 10.1023/A:1005608019977
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- Publication type:
- Article
β-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 354, doi. 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L
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- Publication type:
- Article
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 593, doi. 10.1023/A:1005565610613
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- Publication type:
- Article
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 675, doi. 10.1023/A:1005440802688
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- Publication type:
- Article
Case of the month: a child with stiff neck.
- Published in:
- 1997
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- Publication type:
- journal article
Case of the month: a child with stiff neck.
- Published in:
- European Journal of Pediatrics, 1997, v. 156, n. 9, p. 737, doi. 10.1007/s004310050702
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- Publication type:
- Article