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 genomic variations and chromosomal abnormalities
Abdelaziz
Sefiani
Scholar“Research focused on Genomic variations and chromosomal abnormalities and adjacent fields.”
Mohammed V University
Morocco
Claim Your ProfileMorocco30
H-index
3.6k
Citations
Abdelaziz has not officially claimed their profile. If you are Abdelaziz, claim it free.
Claim Your Profile
Pioneer
LOCKED
Pathfinder
LOCKED
Scholar
EARNED
Innovator
LOCKED
Inventor
LOCKED
Catalyst
LOCKED
Expert
UPGRADE
01 · About the work
What I study
bdelaziz Sefiani is a researcher working on Genomic variations and chromosomal abnormalities. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Abdelaziz's work has been cited 3,607 times across 3 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Genomic variations and chromosomal abnormalities×27Genomics and Rare Diseases×16Genetics and Neurodevelopmental Disorders×12Genetic Syndromes and Imprinting×12Neurogenetic and Muscular Disorders Research×12
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 works4 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
30 Aug 2024Open access
Unique Female Patient with <i>de novo</i> 6q22.31q27 Duplication and Xq28 Deletion: Case Report and Brief Literature ReviewPublisher siteOBM Genetics, Genomic variations and chromosomal abnormalities
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
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
Expert Academic Profiles go further
Citation trend analytics, exportable publication records, and direct enquiry routing from industry and funders.
Are you Abdelaziz?
Claim it to verify your details, connect with industry partners, and explore Fractional Domain Expert opportunities through MARATTO™.
African researchers are full of potential that too often goes unrecognised. Your MARATTO™ profile gives your work the commercial pathway it deserves.
Claim Your Profile
Free to claim · takes a minute to verify it’s you