Last Updated: 09/26/2026
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Found 7 publications
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
Journal: Genes
Published: October 20, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 02, 2020
Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study.
Journal: Translational neuroscience
Published: July 04, 2018
Autozygome and high throughput confirmation of disease genes candidacy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 16, 2018
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Journal: Journal of neurophysiology
Published: April 17, 2017
Acute disseminated encephalomyelitis and thrombocytopenia following Epstein-Barr virus infection.
Journal: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
Published: October 19, 2013
Showing 1-7 of 7
Last Updated: 09/26/2026