Associated Papers
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.
Cells, 2025
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O et al.
Clinical Genetics, 2022
Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases.
Ruiz Herrero J et al.
Nutrients, 2021
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
28327206 (PubMed )
Supplement: 13073_2017_412_MOESM3_ESM.xlsx › Sheet1
Muscle biopsy findings in a child with NALCN gene mutation.
Sivaraman I et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2016
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