X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

Zahra Aadam, Nadia Kechout, Abdelhamid Barakat, +27

Journal of Clinical Immunology

North African PatientsHematologyX-linked AgammagobulinemiaPathologyNovel Btk Mutations +4

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss

Amina Bakhchane, Amale Bousfiha, Hicham Charoute, +10

European Journal of Medical Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsAudiology +9

Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees

Amina Bakhchane, Majida Charif, Sara Salime, +5

PLoS ONE

Mendelian DisorderGenetic DisorderMedicineGeneticsTbc1d24 Gene +12

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

Amina Bakhchane, Hicham Charoute, Halima Nahili, +5

Gene

Novel MutationMendelian DisorderMoroccan FamilyGenetic DisorderGenetics +10

Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families

Sara Salime, Majida Charif, Amale Bousfiha, +7

International Journal of Pediatric Otorhinolaryngology

Homozygous MutationsMyo15a GenesGenetic DisorderGeneticsAudiology +8

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the<b><i> R-spondin1 </i></b>Gene Associated with Familial 46,XX DSD

Yassine Naasse, Amina Bakhchane, Hicham Charoute, +7

Sexual Development

Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients

Meryam El Khachibi, Brehima Diakité, Khalil Hamzi, +7

BMC Cancer

Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population

Hicham Charoute, Amina Bakhchane, Houda Benrahma, +7

Human Mutation

Genetic TestingGeneticsCoalescence TimeDisease Gene IdentificationGenomics +16

Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family

Amale Bousfiha, Amina Bakhchane, Hicham Charoute, +5

Molecular Biology Reports

Mendelian DisorderMoroccan Deaf FamilyGenetic DisorderGeneticsWhole Exome Sequencing +5

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Amale Bousfiha, Amina Bakhchane, Hicham Charoute, +6

Human Genome Variation