Found: 6
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A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
- Published in:
- Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1
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- Article
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12354, doi. 10.3390/ijms222212354
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- Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
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- Article
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.
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- Pediatric Nephrology, 2008, v. 23, n. 4, p. 587, doi. 10.1007/s00467-007-0675-z
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- Article
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
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- PLoS Genetics, 2021, v. 17, n. 8, p. 1, doi. 10.1371/journal.pgen.1009698
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- Article
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 1, p. 151, doi. 10.1093/hmg/ddac199
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- Article