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Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 298, doi. 10.1007/s00439-003-1063-9
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- Publication type:
- Article
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1867, doi. 10.1093/hmg/ddt040
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- Publication type:
- Article
Single-sperm analysis for recurrence risk assessment of spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 4, p. 505, doi. 10.1038/ejhg.2009.198
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- Publication type:
- Article
Prenatal diagnosis of respiratory chain deficiency by direct mutation screening.
- Published in:
- 2001
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- Publication type:
- journal article
First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 13, p. 1048, doi. 10.1002/1097-0223(200012)20:13<1048::AID-PD975>3.0.CO;2-8
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- Publication type:
- Article
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 207, doi. 10.1038/79936
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- Publication type:
- Article
OTC deficiency in females: Phenotype‐genotype correlation based on a 130‐family cohort.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1235, doi. 10.1002/jimd.12404
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- Publication type:
- Article
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
- Published in:
- Human Mutation, 2007, v. 28, n. 1, p. 81, doi. 10.1002/humu.20417
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- Publication type:
- Article
NDP gene mutations in 14 French families with Norrie disease(Communicated by Andreas Gal)Online Citation: Human Mutation, Mutation in Brief #675 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/675.pdf).
- Published in:
- Human Mutation, 2003, v. 22, n. 6, p. 499, doi. 10.1002/humu.9204
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- Publication type:
- Article
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. 116, doi. 10.1002/humu.21417
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- Publication type:
- Article