Found: 23
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DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations.
- Published in:
- Disease Markers, 2006, v. 22, n. 4, p. 257, doi. 10.1155/2006/740493
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- Article
A single-nucleotide polymorphism in the human bone morphogenetic protein-4 (BMP 4) gene.
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- Journal of Human Genetics, 1999, v. 44, n. 1, p. 76, doi. 10.1007/s100380050113
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- Article
Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1101, doi. 10.1002/ajmg.a.63112
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- Article
Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2531, doi. 10.1002/ajmg.a.37844
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- Article
Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols.
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- Asian Journal of Andrology, 2010, v. 12, n. 6, p. 819, doi. 10.1038/aja.2010.58
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- Article
Type 2 Deiodinase Polymorphism (Threonine 92 Alanine) Predicts L-Thyroxine Dose to Achieve Target Thyrotropin Levels in Thyroidectomized Patients.
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- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 910, doi. 10.1210/jc.2007-1067
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- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
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- Article
Genetic testing in Italy, year 2004.
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- European Journal of Human Genetics, 2006, v. 14, n. 8, p. 911, doi. 10.1038/sj.ejhg.5201653
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- Article
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs.
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- European Journal of Human Genetics, 2005, v. 13, n. 8, p. 959, doi. 10.1038/sj.ejhg.5201437
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- Article
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
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- European Journal of Human Genetics, 1999, v. 7, n. 6, p. 687, doi. 10.1038/sj.ejhg.5200352
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- Article
Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families.
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- Annals of Human Genetics, 2009, v. 73, n. 5, p. 532, doi. 10.1111/j.1469-1809.2009.00535.x
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- Article
Evaluation of TP53 mutations with the AmpliChip p53 research test in chronic lymphocytic leukemia: Correlation with clinical outcome and gene expression profiling.
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- Genes, Chromosomes & Cancer, 2011, v. 50, n. 4, p. 263, doi. 10.1002/gcc.20852
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- Article
Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 3, p. 582, doi. 10.1002/ajmg.a.33318
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- Article
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
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- Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112
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- Article
Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.
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- Human Mutation, 2005, v. 26, n. 5, p. 494, doi. 10.1002/humu.9377
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- Article
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
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- Human Mutation, 2004, v. 23, n. 6, p. 629, doi. 10.1002/humu.9245
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- Article
DNA Methylation in the Diagnosis of Monogenic Diseases.
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- Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355
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- Article
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
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- Neurogenetics, 2011, v. 12, n. 3, p. 233, doi. 10.1007/s10048-011-0278-5
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- Article
Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification.
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- Neurogenetics, 2006, v. 7, n. 4, p. 269, doi. 10.1007/s10048-006-0051-3
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- Article
Defining the Epsilon-Sarcoglycan (SGCE) Gene Phenotypic Signature in Myoclonus-Dystonia: A Reappraisal of Genetic Testing Criteria.
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- Movement Disorders, 2013, v. 28, n. 6, p. 787, doi. 10.1002/mds.25506
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- Article
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
- Published in:
- Human Mutation, 2001, v. 18, n. 2, p. 109, doi. 10.1002/humu.1160
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- Article
A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy.
- Published in:
- Human Heredity, 1999, v. 49, n. 1, p. 59, doi. 10.1159/000022843
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- Article
Interaction of DIO2 T92A and PPARγ2 P12A Polymorphisms in the Modulation of Metabolic Syndrome.
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- Obesity (19307381), 2007, v. 15, n. 12, p. 2889, doi. 10.1038/oby.2007.343
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- Article