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Mostrando ítems 1-16 de 16
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Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
(Frontiers Media, 2023-07-12) -
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
(MDPI, 2022-10-06) -
Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction
(Wolters Kluwer Health, 2024-04) -
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
(Oxford University Press, 2023-12) -
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
(Frontiers Media, 2023-08-17) -
When Sugar Reaches the Liver: Phenotypes of Patients with Diabetes and NAFLD
(MDPI, 2022-06-08)