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Complement System as a New Target for Hematopoietic Stem Cell Transplantation-Related Thrombotic Microangiopathy.
- Published in:
- Pharmaceuticals (14248247), 2022, v. 15, n. 7, p. N.PAG, doi. 10.3390/ph15070845
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- Publication type:
- Article
Epidemiology of haemolytic uremic syndrome in children. Data from the North Italian HUS network.
- Published in:
- 2016
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- Publication type:
- journal article
Hypokalaemia and failure to thrive: report of a misleading onset.
- Published in:
- Journal of Paediatrics & Child Health, 2010, v. 46, n. 5, p. 276, doi. 10.1111/j.1440-1754.2009.01684.x
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- Publication type:
- Article
Genetic diagnosis by chorionic villus sampling before 8 gestational weeks: Efficiency, reliability, and risks on 317 completed pregnancies.
- Published in:
- Prenatal Diagnosis, 1992, v. 12, n. 10, p. 789, doi. 10.1002/pd.1970121004
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- Publication type:
- Article
Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.
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- Muscle & Nerve, 2003, v. 28, n. 4, p. 508, doi. 10.1002/mus.10429
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- Publication type:
- Article
Functional Study of Novel Bartter's Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine.
- Published in:
- Frontiers in Pharmacology, 2020, v. 11, p. 1, doi. 10.3389/fphar.2020.00327
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- Publication type:
- Article
Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2014, v. 27, n. 6/10, p. 971, doi. 10.1515/jpem-2014-0052
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- Publication type:
- Article
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
- Published in:
- Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00131
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- Publication type:
- Article
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
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- Journal of Neurology, 2011, v. 258, n. 9, p. 1610, doi. 10.1007/s00415-011-5979-z
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- Publication type:
- Article
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus.
- Published in:
- 2018
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- Publication type:
- Case Study
Hemoconcentration: a major risk factor for neurological involvement in hemolytic uremic syndrome.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 2, p. 345, doi. 10.1007/s00467-014-2918-0
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- Publication type:
- Article
Phosphate homeostasis in Bartter syndrome: a case-control study.
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- Pediatric Nephrology, 2014, v. 29, n. 11, p. 2133, doi. 10.1007/s00467-014-2846-z
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- Publication type:
- Article
Early appearance of hypokalemia in Gitelman syndrome.
- Published in:
- 2010
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- Publication type:
- Case Study
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 12, p. 1413, doi. 10.1007/s00467-004-1611-0
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- Publication type:
- Article
Phenotypic variability in Bartter syndrome type I.
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- Pediatric Nephrology, 2000, v. 14, n. 10/11, p. 940, doi. 10.1007/PL00013418
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- Publication type:
- Article
Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1011, doi. 10.1002/pd.1238
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- Publication type:
- Article
Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes.
- Published in:
- Nephrology Dialysis Transplantation, 2015, v. 30, n. 4, p. 621, doi. 10.1093/ndt/gfu362
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- Publication type:
- Article
The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.
- Published in:
- Nephrology Dialysis Transplantation, 2011, v. 26, n. 2, p. 557
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- Publication type:
- Article
Long-term follow-up of patients with Bartter syndrome type I and II.
- Published in:
- Nephrology Dialysis Transplantation, 2010, v. 25, n. 9, p. 2976, doi. 10.1093/ndt/gfq119
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- Publication type:
- Article
Bartter syndrome type 3: an unusual cause of nephrolithiasis.
- Published in:
- Nephrology Dialysis Transplantation, 2002, v. 17, n. 3, p. 521, doi. 10.1093/ndt/17.3.521
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- Publication type:
- Article
Diabetic Ketoacidosis Complicated With Previously Unknown Gitelman Syndrome in a Tunisian Child.
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- Diabetes Care, 2011, v. 34, n. 6, p. e107, doi. 10.2337/dc11-0127
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- Publication type:
- Article
Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 321, doi. 10.1002/humu.9064
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- Publication type:
- Article
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
- Published in:
- Human Mutation, 2002, v. 20, n. 1, p. 78, doi. 10.1002/humu.9045
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- Publication type:
- Article
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 73, doi. 10.1186/1471-2350-13-73
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- Publication type:
- Article
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 37, doi. 10.1186/1471-2350-12-37
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- Publication type:
- Article