Found: 11
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Delayed recognition of childhood arterial ischemic stroke.
- Published in:
- Pediatrics International, 2019, v. 61, n. 9, p. 895, doi. 10.1111/ped.13966
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- Publication type:
- Article
Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndrome.
- Published in:
- Pediatrics International, 2015, v. 57, n. 2, p. e45, doi. 10.1111/ped.12612
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- 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
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- 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
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- 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
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- 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
De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences.
- Published in:
- Epilepsia Open, 2019, v. 4, n. 3, p. 476, doi. 10.1002/epi4.12339
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- Publication type:
- Article
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
- Published in:
- 2019
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- Publication type:
- journal article
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.
- Published in:
- 2020
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- Publication type:
- Case Study
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
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- 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