Found: 9
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Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
- Published in:
- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01074
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- Article
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
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- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00041
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- Article
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
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- Clinical Genetics, 2019, v. 95, n. 2, p. 339, doi. 10.1111/cge.13466
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- Article
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
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- Genes, 2020, v. 11, n. 1, p. 51, doi. 10.3390/genes11010051
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- Article
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
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- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239965
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- Article
Genetic profile of a large Spanish cohort with hypercalcemia.
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- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1297614
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- Article
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-38179-6
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- Article
3p14 De Novo Interstitial Microdeletion in a Patient with Intellectual Disability and Autistic Features with Language Impairment: A Comparison with Similar Cases.
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- Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/876348
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- Article
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82661-y
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- Article