Found: 8
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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1887, doi. 10.1093/brain/awad436
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- Article
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
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- Genes, 2021, v. 12, n. 5, p. 695, doi. 10.3390/genes12050695
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- Article
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25844-5
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- Article
Birt-Hogg-Dubé syndrome.
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- European Respiratory Review, 2020, v. 29, n. 157, p. 1, doi. 10.1183/16000617.0042-2020
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- Article
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1658, doi. 10.1002/ajmg.a.63173
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- Article
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2602, doi. 10.1002/ajmg.a.62343
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- Article
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-63164-y
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- Article
SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 7, p. 2001, doi. 10.1111/ene.15793
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- Article