Found: 10
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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
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6100, doi. 10.3390/ijms24076100
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- Article
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4879, doi. 10.3390/ijms23094879
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- Article
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4230, doi. 10.3390/ijms23084230
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- Article
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5609, doi. 10.3390/ijms22115609
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- Article
Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review.
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- 2022
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- Case Study
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
Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 13, p. 7240, doi. 10.3390/ijms25137240
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- Article
Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.
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- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/9498140
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- Article
First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 591, doi. 10.1002/ajmg.a.61999
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- Article