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Last Updated: 03/06/2025
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Found 107 publications
Systemic complications of Aicardi Goutières syndrome using real-world data.
Journal: Molecular genetics and metabolism
Published: May 29, 2024
Risk Factor Predictors for Developing Epilepsy in Cerebral Palsy Patients in a Tertiary Hospital in Saudi Arabia: A Retrospective Study.
Journal: Cureus
Published: May 09, 2024
Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.
Journal: Frontiers in pediatrics
Published: August 07, 2023
Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).
Journal: Research square
Published: May 10, 2023
Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).
Journal: Mammalian genome : official journal of the International Mammalian Genome Society
Published: April 20, 2023
Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.
Journal: Frontiers in pediatrics
Published: March 10, 2023
Cerebral folate deficiency: A report of two affected siblings.
Journal: Molecular genetics and metabolism reports
Published: March 08, 2023
Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.
Journal: Clinical dysmorphology
Published: March 06, 2023
Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene.
Journal: Cerebellum (London, England)
Published: August 25, 2022
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Journal: Clinical genetics
Published: February 10, 2022
An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: January 27, 2022
Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.
Journal: American journal of ophthalmology case reports
Published: January 15, 2022
Last Updated: 03/06/2025