A. Bakhchane

发表

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

G. Lenaers, S. Abdelhak, H. Charoute, 2015, Human mutation.

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile

H. Charoute, A. Bakhchane, A. Barakat, 2017, BMC Research Notes.

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

A. Benider, A. Bakhchane, A. Barakat, 2015, BMC Cancer.

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

L. Jeddane, F. Ailal, Y. Lau, 2016, Journal of Clinical Immunology.

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

Majida Charif, G. Lenaers, H. Charoute, 2017, Molecular Biology Reports.

Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients.

H. Charoute, A. Bakhchane, H. Benrahma, 2015, Pathologie-biologie.

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss

Majida Charif, G. Lenaers, H. Charoute, 2017, PloS one.

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

Majida Charif, G. Lenaers, H. Charoute, 2015, Gene.

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

C. Petit, H. Charoute, A. Bakhchane, 2017, Human Genome Variation.

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

Majida Charif, G. Lenaers, A. Bakhchane, 2015, PloS one.

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

O. Boespflug-Tanguy, A. Bakhchane, A. Barakat, 2015, BMC Neurology.

A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis

H. Charoute, A. Bakhchane, A. Barakat, 2020, Human Heredity.

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

H. Charoute, A. Bakhchane, H. Rouba, 2017, Sexual Development.

Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.

A. Bakhchane, A. Barakat, A. Badou, 2021, Immunobiology.

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

C. Petit, H. Charoute, A. Bakhchane, 2019, Human Heredity.

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

Majida Charif, G. Lenaers, H. Charoute, 2017, International journal of pediatric otorhinolaryngology.

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

L. Jeddane, F. Ailal, Y. Lau, 2016, Journal of Clinical Immunology.

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

H. Charoute, A. Bakhchane, H. Rouba, 2016, European journal of medical genetics.

Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).

H. Charoute, A. Bakhchane, A. Barakat, 2016, Current research in translational medicine.

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile

H. Charoute, A. Bakhchane, A. Barakat, 2017, BMC Research Notes.

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.

H. Charoute, A. Bakhchane, A. Barakat, 2016, Current research in translational medicine.

Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss.

G. Lenaers, A. Bakhchane, H. Rouba, 2013, Gene.

Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population

S. Abdelhak, H. Charoute, A. Bakhchane, 2018, Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.

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

G. Lenaers, H. Charoute, A. Bakhchane, 2015, Gene.

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

A. Bakhchane, A. Barakat, C. Bonnet, 2023, Biochemical genetics.

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

G. Lenaers, H. Charoute, A. Bakhchane, 2017, Molecular Biology Reports.

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

A. Benider, A. Bakhchane, A. Barakat, 2015, BMC Cancer.