Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis
Ourayna Batta, Yasmina Rahmuni, Jaber Lyahyai, Zineb Rchiad et autres
0 citationsGenes
Jaber Lyahyai
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
88Publications signalées
1115Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Prion Diseases and Protein MisfoldingTrace Elements in HealthGenomics and Rare DiseasesMuscle Physiology and DisordersCorneal surgery and disorders
Publications récentes
Genetic Landscape of NAT2 in the Moroccan Population: Implications for Isoniazid Pharmacogenetics in Tuberculosis
Nada Benyahya, Mohsine-Ali El-Hamri, Jaber Lyahyai, Ilham Ratbi et autres
0 citationsClinical and Translational Science
A Novel Biallelic REL Frameshift Variant p.(Tyr9Ilefs*2) Causing Immunodeficiency‐92 With Profound c‐Rel Deficiency
Mohsine-Ali El-Hamri, Zineb Sabky, Nada Benyahya, Oualid Abboussi et autres
0 citationsAnnals of Human Genetics
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing
Yasmina Rahmuni, I. Ratbi, Jaber Lyahyai, Imane Cherkaoui Jaouad et autres
0 citationsMolecular Genetics & Genomic Medicine
Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with Nephronophthisis
Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal et autres
0 citationsJournal of Pediatric Genetics
Novel germline and somatic variants in familial and sporadic meningioma genes
Bouchra Ouled Amar Bencheikh, Allison A. Dilliott, Julie Gauthier, Sandra B. Laurent et autres
0 citationsnpj Genomic Medicine
The c. 529G >A (p. Ala177Thr ) RNASEH2B Gene Pathogenic Variant as a First‐Line Genetic Test for Aicardi‐Goutières Syndrome: A Case Series of Four Moroccan Families
Mouna Ouhenach, A. M. K. Nada, Jaber Lyahyai, Abdelaziz Sefiani
2 citationsAmerican Journal of Medical Genetics Part A
Genotype First Approach as a Diagnostic Strategy for Precision Medicine in Moroccan Families with Nephronophthisis
Ourayna Batta, Imane J. Cherkaoui, Yasmina Rahmuni, Nada Amllal et autres
0 citationsJournal of Pediatric Genetics
Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants
Nada Amllal, Jaber Lyahyai, Lamiae Afif, Yamna Kriouile et autres
1 citationEpileptic Disorders
Novel variant related to SATB2‐associated syndrome
Nada Benyahya, Nada Amllal, Siham Chafai Elalaoui, Mustapha El Alloussi et autres
0 citationsInternational Journal of Developmental Neuroscience
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants
Yasmina Rahmuni, Youssef El Kadiri, Jaber Lyahyai, Abdelaziz Sefiani et autres
0 citationsIrish Journal of Medical Science (1971 -)
A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description
Nada Amllal, Maria Zerkaoui, Wafaa Jdioui, Siham Chafai Elalaoui et autres
0 citationsMolecular Biology Reports
BNTIC News n’est pas le producteur de ces données. Métadonnées interrogées à la demande auprès de OpenAlex (CC0). Sources et limites.