Biologic and Molecular Integrative Approach for the Diagnosis of Hemoglobinopathies
Manzama-Esso Kassang KONZI, Asmaa Morjan, Youssef BAMOU, Nada Amllal et autres
0 citationsAsian Journal of Biochemistry Genetics and Molecular Biology
Nada Amllal
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12Publications signalées
9Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenetic and Kidney Cyst DiseasesGenetics and Neurodevelopmental DisordersEpilepsy research and treatmentMetabolism and Genetic Disorders
Publications récentes
Clinical Exome Sequencing as a Key Diagnostic Tool: A Rare de novo TRIO Variant in Dizygotic Twins
Hicham Bouchahta, Maryem Sahli, Nada Amllal, Mouna Ouhenach et autres
0 citationsMolecular Syndromology
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
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
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
First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report
Nada Amllal, Jaber Lyahyai, Siham Chafai Elalaoui, Abdelaziz Sefiani et autres
0 citationsGene Reports
Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report
Nada Amllal, Jaber Lyahyai, Siham Chafai Elalaoui, Youssef El Kadiri et autres
3 citationsMolecular Syndromology
Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report
Hinde El Mouhi, Nada Amllal, Meriame Abbassi, Ayoub Nedbour et autres
1 citationMolecular Biology Reports
Identification of Novel and De Novo Mutation in the SCN1A Gene By Exome Sequencing Confirms Dravet Syndrome in Moroccan Child: A Case Report
Hinde El Mouhi, Nada Amllal, Meriame Abbassi, Ayoub Nedbour et autres
0 citationsResearch Square
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome
Nada Amllal, Siham Chafai Elalaoui, Maria Zerkaoui, Amal Chiguer et autres
4 citationsAnnals of Laboratory Medicine
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