Found: 15
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Two patients with acute rotavirus encephalitis associated with cerebellar signs and symptoms.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 405, doi. 10.1038/jhg.2014.41
- By:
- Publication type:
- Article
A case of early‐onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 645, doi. 10.1002/ajmg.a.61056
- By:
- Publication type:
- Article
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1863, doi. 10.1002/ajmg.a.37653
- By:
- Publication type:
- Article
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKTmTOR pathway-associated megalencephaly.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-016-0363-6
- By:
- Publication type:
- Article
Chestnut goby, Gymnogobius castaneus (O’Shaughnessy 1875), as a suitable host of Anemina arcaeformis (Heude 1877) in floodplain water bodies, Hokkaido, Northern Japan.
- Published in:
- Limnology, 2018, v. 19, n. 3, p. 343, doi. 10.1007/s10201-018-0553-3
- By:
- Publication type:
- Article
Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 10, p. 1111, doi. 10.1515/jpem-2017-0035
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- Publication type:
- Article
Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.
- Published in:
- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0237814
- By:
- Publication type:
- Article
Immune Regulation in Time and Space: The Role of Local- and Long-Range Genomic Interactions in Regulating Immune Responses.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.662565
- By:
- Publication type:
- Article
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
- Published in:
- Journal of Neurochemistry, 2017, v. 140, n. 1, p. 82, doi. 10.1111/jnc.13878
- By:
- Publication type:
- Article
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0074-6
- By:
- Publication type:
- Article
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0046-x
- By:
- Publication type:
- Article
Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.
- Published in:
- Clinical Pediatric Endocrinology, 2022, v. 31, n. 1, p. 44, doi. 10.1297/cpe.2021-0029
- By:
- Publication type:
- Article
Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article