Found: 4
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First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
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- Article
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 560, doi. 10.3390/genes12040560
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- Article
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 236, doi. 10.1111/cge.14249
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- Article
Exploring genotype–phenotype correlations in glutaric aciduria type 1.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 371, doi. 10.1002/jimd.12608
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- Article