Mengmeng Liang
Beijing, 100089, China
Last Updated: 09/26/2026
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Found 10 publications
De novo variants of IRF2BPL result in developmental epileptic disorder.
Journal: Orphanet journal of rare diseases
Published: September 03, 2023
Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.
Journal: Molecular genetics & genomic medicine
Published: July 18, 2023
A de novo variant of BICRA results in Coffin-Siris syndrome 12.
Journal: Molecular genetics & genomic medicine
Published: January 10, 2023
A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.
Journal: Cytogenetic and genome research
Published: November 23, 2022
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.
Journal: Journal of human genetics
Published: November 07, 2022
Anti-AQP4-IgG-positive Leigh syndrome: A case report and review of the literature.
Journal: Frontiers in pediatrics
Published: September 17, 2022
Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.
Journal: Molecular genetics & genomic medicine
Published: March 16, 2022
Rare variant of TBL1XR1 in West syndrome: A case report.
Journal: Molecular genetics & genomic medicine
Published: February 27, 2022
Case Report: Biventricular Noncompaction Cardiomyopathy With Pulmonary Stenosis and Bradycardia in a Fetus With KCNH2 Mutation.
Journal: Frontiers in genetics
Published: November 24, 2021
Exon skipping caused by a complex structural variation in SH2D1A resulted in X-linked lymphoproliferative syndrome type 1.
Journal: Molecular genetics & genomic medicine
Published: October 08, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026