Found: 10
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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 7, p. 377, doi. 10.1007/s00431-002-0970-4
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- Publication type:
- Article
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study.
- Published in:
- 2017
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- Publication type:
- journal article
Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 8, p. 415, doi. 10.1007/s10038-003-0048-9
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- Publication type:
- Article
Genetic Calcium Signaling Abnormalities in the Central Nervous System: Seizures, Migraine, and Autism.
- Published in:
- Annals of the New York Academy of Sciences, 2009, v. 1151, p. 133, doi. 10.1111/j.1749-6632.2008.03572.x
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- Publication type:
- Article
High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder.
- Published in:
- Scientific Reports, 2017, p. 40740, doi. 10.1038/srep40740
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- Publication type:
- Article
Relative Carnitine Deficiency in Autism.
- Published in:
- Journal of Autism & Developmental Disorders, 2004, v. 34, n. 6, p. 615, doi. 10.1007/s10803-004-5283-1
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- Publication type:
- Article
CCG1/TAF<sub>II</sub>250 regulates epidermal growth factor receptor gene transcription in cell cycle mutant ts13.
- Published in:
- Journal of Cellular Physiology, 1998, v. 176, n. 3, p. 642, doi. 10.1002/(SICI)1097-4652(199809)176:3<642::AID-JCP21>3.0.CO;2-#
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- Publication type:
- Article
Monogenic migraine syndromes highlight novel drug targets.
- Published in:
- Drug Development Research, 2007, v. 68, n. 7, p. 432, doi. 10.1002/ddr.20212
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- Publication type:
- Article
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005097
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- Publication type:
- Article
Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 5, p. 681, doi. 10.1093/hmg/6.5.681
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- Publication type:
- Article