Found: 10
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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 1, p. 90, doi. 10.1093/hmg/ddt401
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- Article
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 12, p. 2297, doi. 10.1093/hmg/ddr122
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- Article
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 360, doi. 10.1038/ng.777
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- Article
De Novo Mutations in Moderate or Severe Intellectual Disability.
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- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004772
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- Article
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
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- BMC Medical Genetics, 2014, v. 15, n. 1, p. 156, doi. 10.1186/s12881-014-0139-9
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- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
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- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
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- Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
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- Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
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- Article
Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome.
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- Human Mutation, 2013, v. 34, n. 1, p. 103, doi. 10.1002/humu.22226
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- Article
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1114, doi. 10.1002/humu.21546
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- Article