Found: 14
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The NuRD complex and macrocephaly associated neurodevelopmental disorders.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 548, doi. 10.1002/ajmg.c.31752
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- Article
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 29, doi. 10.1002/ajmg.a.62981
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- Article
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
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- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-023-02678-x
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- Article
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
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- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 476, doi. 10.1038/ejhg.2011.222
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- Article
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy.
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- Molecular Brain, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13041-019-0509-5
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- Article
Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening.
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- Cellular & Molecular Life Sciences, 2023, v. 80, n. 4, p. 1, doi. 10.1007/s00018-023-04705-y
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- Article
Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 194, doi. 10.1093/brain/aws317
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- Article
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1.
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- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1162, doi. 10.1093/hmg/ddac279
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- Article
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
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- Nature Communications, 2014, v. 5, n. 2, p. 3251, doi. 10.1038/ncomms4251
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- Article
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
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- Clinical Genetics, 2021, v. 99, n. 4, p. 547, doi. 10.1111/cge.13912
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- Article
Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy.
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- Annals of Neurology, 2008, v. 64, n. 5, p. 583, doi. 10.1002/ana.21522
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- Article
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.
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- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5638, doi. 10.1093/hmg/ddu280
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- Article
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
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- PLoS Genetics, 2011, v. 7, n. 10, p. 1, doi. 10.1371/journal.pgen.1002325
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- Article
Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.
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- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 6, p. 379, doi. 10.1002/acn3.64
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- Article