Found: 16
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 9, doi. 10.1534/genetics.117.203067
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- Publication type:
- Article
Identification of novel candidate disease genes from de novo exonic copy number variants.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0472-7
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- Publication type:
- Article
MeCP2: only 100% will do.
- Published in:
- Nature Neuroscience, 2012, v. 15, n. 2, p. 176, doi. 10.1038/nn.3027
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- Publication type:
- Article
An Integrated Phenotypic and Genotypic Approach Reveals a High‐Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 1, p. 138, doi. 10.1002/ana.26359
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- Publication type:
- Article
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
- Published in:
- Nature, 2010, v. 468, n. 7321, p. 263, doi. 10.1038/nature09582
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- Publication type:
- Article
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1718, doi. 10.1093/hmg/ddn062
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- Publication type:
- Article
Investigation of Synapse Formation and Function in a Glutamatergic-GABAergic Two-Neuron Microcircuit.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 3, p. 855, doi. 10.1523/JNEUROSCI.0229-13.2014
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- Publication type:
- Article
Dendritic Arborization and Spine Dynamics Are Abnormal in the Mouse Model of MECP2 Duplication Syndrome.
- Published in:
- Journal of Neuroscience, 2013, v. 33, n. 50, p. 19518, doi. 10.1523/JNEUROSCI.1745-13.2013
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- Publication type:
- Article
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1619, doi. 10.1002/ajmg.a.63177
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- Publication type:
- Article
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3516, doi. 10.1002/ajmg.a.62940
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- Publication type:
- Article
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1868, doi. 10.1002/ajmg.a.62704
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- Publication type:
- Article
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 475, doi. 10.1002/ajmg.a.61007
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- Publication type:
- Article
Clinical and molecular characterization of de novo loss of function variants in HNRNPU.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2680, doi. 10.1002/ajmg.a.38388
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- Publication type:
- Article
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
- Published in:
- 2021
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- Publication type:
- journal article
Binding of the complexin N terminus to the SNARE complex potentiates synaptic-vesicle fusogenicity.
- Published in:
- Nature Structural & Molecular Biology, 2010, v. 17, n. 5, p. 568, doi. 10.1038/nsmb.1791
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- Publication type:
- Article
Distinct domains of complexin I differentially regulate neurotransmitter release.
- Published in:
- Nature Structural & Molecular Biology, 2007, v. 14, n. 10, p. 949, doi. 10.1038/nsmb1292
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- Publication type:
- Article