Found: 28
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Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 40, doi. 10.1007/s004390051007
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- Publication type:
- Article
Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.
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- Acta Myologica, 2017, v. 36, n. 3, p. 163
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- Publication type:
- Article
Sporadic and MEN1-Related Primary Hyperparathyroidism: Differences in Clinical Expression and Severity.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 8, p. 1404, doi. 10.1359/JBMR.090304
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- Publication type:
- Article
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 6, p. 485, doi. 10.1007/s10038-007-0138-1
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- Publication type:
- Article
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.
- Published in:
- Cellular Oncology (2211-3428), 2012, v. 35, n. 6, p. 411, doi. 10.1007/s13402-012-0100-x
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- Publication type:
- Article
Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
- Published in:
- Neurogenetics, 2007, v. 8, n. 1, p. 29, doi. 10.1007/s10048-006-0056-y
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- Publication type:
- Article
Generation of a transcription map of a 1 Mbase region containing the HFE gene (6p22).
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 105, doi. 10.1038/sj.ejhg.5200162
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- Publication type:
- Article
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
- Published in:
- Minerva Endocrinology, 2022, v. 47, n. 1, p. 4, doi. 10.23736/S2724-6507.21.03477-1
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- Publication type:
- Article
Novel association of MEN1 gene mutations with parathyroid carcinoma.
- Published in:
- 2017
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- Publication type:
- Case Study
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 829, doi. 10.1111/cge.13944
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- Publication type:
- Article
Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial.
- Published in:
- 2020
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- Publication type:
- journal article
Osteoporosis in β-thalassaemia major patients: analysis of the genetic background.
- Published in:
- British Journal of Haematology, 2000, v. 111, n. 2, p. 461, doi. 10.1046/j.1365-2141.2000.02382.x
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- Publication type:
- Article
Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082292
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- Publication type:
- Article
Transforming Growth Factor-β1 Gene Polymorphism, Bone Turnover, and Bone Mass in Italian Postmenopausal Women.
- Published in:
- Journal of Bone & Mineral Research, 2000, v. 15, n. 4, p. 634, doi. 10.1359/jbmr.2000.15.4.634
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- Publication type:
- Article
Calcium-Sensing Receptor (CASR) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 4, p. 1819, doi. 10.1210/jc.2008-2430
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- Publication type:
- Article
Primary Hyperparathyroidism and the Presence of Kidney Stones Are Associated with Different Haplotypes of the Calcium-Sensing Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 1, p. 277, doi. 10.1210/jc.2006-0857
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- Publication type:
- Article
Diagnosis of Parathyroid Tumors in Familial Isolated Hyperparathyroidism with HRPT2 Mutation: Implications for Cancer Surveillance.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 8, p. 2827, doi. 10.1210/jc.2005-1239
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- Publication type:
- Article
Blood Ionized Calcium Is Associated with Clustered Polymorphisms in the Carboxyl-Terminal Tail of the Calcium-Sensing Receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 11, p. 5634, doi. 10.1210/jc.2004-0129
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- Publication type:
- Article
Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family.
- Published in:
- Endocrine (1355008X), 2011, v. 40, n. 3, p. 481, doi. 10.1007/s12020-011-9501-2
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- Publication type:
- Article
VHL gene alterations in italian patients with isolated renal cell carcinomas.
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- International Journal of Biological Markers, 2013, v. 28, n. 2, p. 208, doi. 10.5301/JBM.5000011
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- Publication type:
- Article
Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR.
- Published in:
- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/854737
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- Publication type:
- Article
VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line.
- Published in:
- Journal of Biomedicine & Biotechnology, 2009, p. 1, doi. 10.1155/2009/860761
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- Publication type:
- Article
Candidate gene study of HOXB1 in autism spectrum disorder.
- Published in:
- Molecular Autism, 2010, v. 1, n. 1, p. 1, doi. 10.1186/2040-2392-1-9
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- Publication type:
- Article
Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.
- Published in:
- 2016
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- Publication type:
- commentary
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. e24, doi. 10.1002/humu.23851
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- Publication type:
- Article
A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1885, doi. 10.1002/humu.23629
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- Publication type:
- Article
A novel mutation in the mitochondrial tRNA<sup>Val</sup> gene associated with a complex neurological presentation.
- Published in:
- Annals of Neurology, 1998, v. 43, n. 1, p. 98, doi. 10.1002/ana.410430116
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- Publication type:
- Article
Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 9, p. 1605, doi. 10.1093/hmg/6.9.1605
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- Publication type:
- Article