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A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
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- Cerebellum, 2018, v. 17, n. 3, p. 276, doi. 10.1007/s12311-017-0893-2
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- Article
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63498
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- Article
SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion.
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- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 75, doi. 10.1002/jmd2.12218
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- Article
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype.
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- Clinical Genetics, 2021, v. 99, n. 5, p. 724, doi. 10.1111/cge.13932
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- Article
Genetics of ataxia telangiectasia in a highly consanguineous population.
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- Annals of Human Genetics, 2022, v. 86, n. 1, p. 34, doi. 10.1111/ahg.12445
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- Article
A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families.
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- Cells (2073-4409), 2022, v. 11, n. 19, p. 3154, doi. 10.3390/cells11193154
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- Article
Molecular and clinical spectra of FBXL4 deficiency.
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- Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
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- Article
Molecular characterization of Joubert syndrome in Saudi Arabia.
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- Human Mutation, 2012, v. 33, n. 10, p. 1423, doi. 10.1002/humu.22134
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- Article