Found: 12
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High resolution SNP array profiling identifies variability in retinoblastoma genome stability.
- Published in:
- Genes, Chromosomes & Cancer, 2014, v. 53, n. 1, p. 1, doi. 10.1002/gcc.22111
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- Publication type:
- Article
A post hoc study on gene panel analysis for the diagnosis of dystonia.
- Published in:
- 2017
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- Publication type:
- journal article
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 87, doi. 10.1007/s10048-020-00622-5
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- Publication type:
- Article
The HLA class III subregion is responsible for an increased breast cancer risk.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 22, p. 3041, doi. 10.1093/hmg/ddg342
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- Publication type:
- Article
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 6, p. 673, doi. 10.1038/sj.ejhg.5202012
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- Publication type:
- Article
Deletion of a DNA sequence at the chromosomal region 3p21 in all major types of lung cancer.
- Published in:
- Nature, 1987, v. 330, n. 6148, p. 578, doi. 10.1038/330578a0
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- Publication type:
- Article
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
- Published in:
- Scientific Reports, 2016, p. 25264, doi. 10.1038/srep25264
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- Publication type:
- Article
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
- Published in:
- Human Mutation, 2006, v. 27, n. 7, p. 654, doi. 10.1002/humu.20340
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- Publication type:
- Article
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients (Communicated by Ulf Landegren).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 57, doi. 10.1002/humu.10283
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- Publication type:
- Article
Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome.
- Published in:
- Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9061
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- Publication type:
- Article
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 461, doi. 10.1002/ajmg.a.36922
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- Publication type:
- Article
The HLA class III subregion is responsible for an increased breast cancer risk.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 18, p. 2311, doi. 10.1093/hmg/ddg245
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- Publication type:
- Article