Found: 11
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Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation.
- Published in:
- Pediatrics International, 2021, v. 63, n. 3, p. 352, doi. 10.1111/ped.14427
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- Publication type:
- Article
Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 2, p. 97, doi. 10.1038/jhg.2014.103
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- Publication type:
- Article
Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 5, p. 273, doi. 10.1038/jhg.2013.15
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- Publication type:
- Article
Refinement of the deletion in 8q22.2-q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2104, doi. 10.1002/ajmg.a.36604
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- Publication type:
- Article
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
- Published in:
- 2012
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- Publication type:
- journal article
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
- Published in:
- 2012
- By:
- Publication type:
- Report
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
- Published in:
- Congenital Anomalies, 2012, v. 52, n. 2, p. 78, doi. 10.1111/j.1741-4520.2012.00357.x
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- Publication type:
- Article
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1278, doi. 10.1007/s00415-015-7705-8
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- Publication type:
- Article
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224
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- Publication type:
- Article
De Novo Mutations in SLC35 A2 Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1708, doi. 10.1002/humu.22446
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- Publication type:
- Article
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 225, doi. 10.1007/s10048-013-0375-8
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- Publication type:
- Article