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Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348
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- Article
Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure.
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- Clinical Genetics, 2012, v. 82, n. 3, p. 205, doi. 10.1111/j.1399-0004.2012.01935.x
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- Article
Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?
- Published in:
- Clinical Genetics, 2011, v. 80, n. 5, p. 493, doi. 10.1111/j.1399-0004.2011.01672.x
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- Article
CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation.
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- Andrologia, 2010, v. 42, n. 5, p. 326, doi. 10.1111/j.1439-0272.2009.00994.x
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- Article
LA MOVIMENTAZIONE MANUALE DEI PAZIENTI IN AMBITO PEDIATRICO: STUDIO DELLE VARIABILI DI RISCHIO E MONITORAGGIO RETROSPETTIVO DEGLI OPERATORI ESPOSTI.
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- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2011, v. 33, p. 210
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- Article
PROPOSTA DI UNA METODOLOGIA PER LA VALUTAZIONE DEL RISCHIO DA MOVIMENTAZIONE MANUALE DEI CARICHI DEL PERSONALE SANITARIO ADDETTO ALL'EMERGENZA.
- Published in:
- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2011, v. 33, p. 209
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- Publication type:
- Article
LA RIPROGETTAZIONE DI POSTAZIONI DI LAVORO PER OPERATORI POSTALI: IL CONTRIBUTO DELL'ANALISI CINEMATICA.
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- Giornale Italiano di Medicina del Lavoro ed Ergonomia, 2011, v. 33, p. 186
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- Publication type:
- Article
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
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- Ultrasound in Obstetrics & Gynecology, 2010, v. 36, n. 3, p. 315, doi. 10.1002/uog.7761
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- Article
Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation.
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- Cancer Chemotherapy & Pharmacology, 2011, v. 68, n. 5, p. 1355, doi. 10.1007/s00280-011-1709-6
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- Article
Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature.
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- Prenatal Diagnosis, 2007, v. 27, n. 6, p. 495, doi. 10.1002/pd.1722
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- Article
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing.
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- 2006
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- Case Study
Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients.
- Published in:
- Human Mutation, 2005, v. 25, n. 3, p. 322, doi. 10.1002/humu.9317
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- Article
Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa.
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- British Journal of Dermatology, 2009, v. 161, n. 2, p. 464, doi. 10.1111/j.1365-2133.2009.09114.x
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- Article
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2.
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- Clinical & Experimental Dermatology, 2016, v. 41, n. 6, p. 632, doi. 10.1111/ced.12857
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- Publication type:
- Article
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
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- Molecular Syndromology, 2013, v. 4, n. 4, p. 173, doi. 10.1159/000349919
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- Article
Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.
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- 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