Found: 10
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Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.
- Published in:
- Molecular Syndromology, 2017, v. 9, n. 1, p. 38, doi. 10.1159/000479949
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- Publication type:
- Article
An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.
- Published in:
- 2017
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- Publication type:
- journal article
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
- Published in:
- 2013
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- Publication type:
- journal article
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 4, p. 397, doi. 10.1002/ajmg.b.32627
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- Publication type:
- Article
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
- Published in:
- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/2051-5960-2-47
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- Publication type:
- Article
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 5, p. 610, doi. 10.1038/ejhg.2014.162
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- Publication type:
- Article
Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS.
- Published in:
- Journal of Investigative Dermatology, 2013, v. 133, n. 9, p. 2229, doi. 10.1038/jid.2013.70
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- Publication type:
- Article
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
- Published in:
- Pediatric Nephrology, 2011, v. 26, n. 8, p. 1331, doi. 10.1007/s00467-011-1884-z
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- Publication type:
- Article
Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma.
- Published in:
- 2017
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- Publication type:
- Letter
Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 1, p. 98, doi. 10.1002/pd.4255
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- Publication type:
- Article