Found: 8
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Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0124-6
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- Publication type:
- Article
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by a BKCa channel opener molecule.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Molecular and clinical analyses with neuropsychological assessment of a case of del(10)(q26.2qter) without intellectual disability: Genomic and transcriptomic combined approach and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1806, doi. 10.1002/ajmg.a.37677
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- Publication type:
- Article
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3072, doi. 10.1002/ajmg.a.36170
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- Publication type:
- Article
FG syndrome: The FGS2 locus revisited.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1489, doi. 10.1002/ajmg.a.35322
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- Publication type:
- Article
PHOX2B gene mutation in a patient with late‐onset central hypoventilation.
- Published in:
- Pediatric Pulmonology, 2004, v. 38, n. 4, p. 349, doi. 10.1002/ppul.20074
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- Publication type:
- Article
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 23, p. 3173, doi. 10.1093/hmg/ddg339
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- Publication type:
- Article
Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.
- Published in:
- Neurogenetics, 2014, v. 15, n. 2, p. 95, doi. 10.1007/s10048-014-0389-x
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- Publication type:
- Article