Found: 8
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De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 6, p. 958, doi. 10.1002/ana.26485
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- Article
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2024, v. 195, n. 6, p. 1, doi. 10.1002/ajmg.b.32970
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- Article
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
- Published in:
- Human Genetics, 2022, v. 141, n. 1, p. 65, doi. 10.1007/s00439-021-02383-z
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- Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
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- Article
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
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- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2466, doi. 10.3390/jcm9082466
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- Article
3q29 duplications: A cohort of 46 patients and a literature review.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63531
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- Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
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- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
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- Article
Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions.
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- Cytogenetic & Genome Research, 2022, v. 162, n. 5, p. 244, doi. 10.1159/000526747
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- Article