Found: 13
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
- Published in:
- Human Genetics, 2010, v. 128, n. 3, p. 281, doi. 10.1007/s00439-010-0848-x
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- Publication type:
- Article
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
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- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0093-5
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- Article
Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1152, doi. 10.1038/ejhg.2011.120
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- Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
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- 2009
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- Correction notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
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- Publication type:
- Article
Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family.
- Published in:
- Pan African Medical Journal, 2021, v. 40, p. 1, doi. 10.11604/pamj.2021.40.105.29527
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- Article
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00409-9
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- Article
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00334-9
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- Article
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.
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- Human Mutation, 2017, v. 38, n. 11, p. 1592, doi. 10.1002/humu.23312
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- Article
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.
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- Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450
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- Article
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
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- Human Mutation, 2008, v. 29, n. 9, p. 1125, doi. 10.1002/humu.20750
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- Publication type:
- Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
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- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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- Publication type:
- Article
Genome sequencing as a generic diagnostic strategy for rare disease.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-024-01301-y
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- Publication type:
- Article