31 Aug 2026Open access
Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for DiagnosisPublisher siteGenes, Kidney Stones and Urolithiasis Treatments
Active, last published 2026
In prion diseases and protein misfolding
Jaber
Lyahyai
Scholar“Research focused on Prion Diseases and Protein Misfolding and adjacent fields.”
Mohammed V University
Morocco
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01 · About the work
What I study
aber Lyahyai is a researcher working on Prion Diseases and Protein Misfolding. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Jaber's work has been cited 1,115 times across 2 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Prion Diseases and Protein Misfolding×15Trace Elements in Health×10Genomics and Rare Diseases×8Muscle Physiology and Disorders×7Corneal surgery and disorders×6
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
12 works12 May 2026
A Novel Biallelic <i>REL</i> Frameshift Variant p.(Tyr9Ilefs*2) Causing Immunodeficiency‐92 With Profound c‐Rel DeficiencyPublisher siteAnnals of Human Genetics, NF-κB Signaling Pathways
25 Feb 2026Open access
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome SequencingPublisher siteMolecular Genetics & Genomic Medicine, Muscle Physiology and Disorders
4 Dec 2024
Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with NephronophthisisPublisher siteJournal of Pediatric Genetics, Genetic and Kidney Cyst Diseases
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
19 Sept 2024Open access
Novel variant related to <i>SATB2</i>‐associated syndromePublisher siteInternational Journal of Developmental Neuroscience, Epigenetics and DNA Methylation
23 Aug 2024
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variantsPublisher siteIrish Journal of Medical Science (1971 -), Pancreatic function and diabetes
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
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