8 Nov 2024Open access
Highlighting the different facets of <i>SMC1A</i> truncating variants: Two patients with novel <i>SMC1A</i> pathogenic variantsPublisher siteEpileptic Disorders, Genomics and Chromatin Dynamics
Active, last published 2026
Siham Chafai
Elalaoui
Scholar“Research profile drawn from open scholarly records.”
Mohammed V University
Morocco
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01 · About the work
What I study
research summary for Siham Chafai Elalaoui will appear here once their profile is updated.
02 · Reach
Publication output and reach
Siham's work has been cited 3 times across 1 active year. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
04 · Where I am
Affiliations
Affiliation on published researchMohammed V University, MoroccoDrawn from the institution listed on this researcher’s published work.
Research themes (UN SDGs)
05 · Selected work
Recent publications
6 works19 Sept 2024Open access
Novel variant related to <i>SATB2</i>‐associated syndromePublisher siteInternational Journal of Developmental Neuroscience, Epigenetics and DNA Methylation
3 Aug 2024
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular descriptionPublisher siteMolecular Biology Reports, Genetic Syndromes and Imprinting
3 Aug 2024
First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case reportPublisher siteGene Reports, Cell Adhesion Molecules Research
2 Apr 2024Open access2cites
Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case ReportPublisher siteMolecular Syndromology, Cellular transport and secretion
28 Jan 20241cites
Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case reportPublisher siteMolecular Biology Reports, Epilepsy research and treatment
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