الرئيسية › دليل الباحثين › Amina Bakhchane

Amina Bakhchane

الانتماء : Institut Pasteur du Maroc

26منشورات (انتماء مغربي)
30مجموع المنشورات
296الاستشهادات
11مؤشر h

الملف البحثي

لدى Amina Bakhchane 26 منشور(ات) مفهرسة (2013–2026). تُنشر أعماله أساسًا في «Human Heredity»، «PLoS ONE» و«Transfusion Clinique et Biologique». أكثر مقالاته استشهادًا هو «X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations» (2016)، وقد استُشهد به 33 مرة. 2 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا.

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إنشاء ملفي المجاني إضافة منشوراتي

مجالات البحث

Hearing, Cochlea, Tinnitus, Genetics
Congenital Ear and Nasal Anomalies
Genomics and Rare Diseases
Hearing Loss and Rehabilitation
Hereditary Neurological Disorders

المنشورات (26)

Genetic diversity of Usher syndrome in Moroccan patients
2026 · Human Genetics
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity
2025 · Proceedings of the National Academy of Sciences · استُشهد به 1 مرة
Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
2023 · Biochemical Genetics · استُشهد به 1 مرة
Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1
2021 · Immunobiology · استُشهد به 7 مرة
Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
2019 · Human Heredity · استُشهد به 7 مرة
A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis
2019 · Human Heredity
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
2017 · Sexual Development · استُشهد به 24 مرة
Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families
2017 · International Journal of Pediatric Otorhinolaryngology · استُشهد به 20 مرة
Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
2017 · Molecular Biology Reports · استُشهد به 12 مرة
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
2017 · PLoS ONE · استُشهد به 11 مرة
A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
2017 · Human Genome Variation · استُشهد به 10 مرة
Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile
2017 · BMC Research Notes · استُشهد به 8 مرة
Expression faible de A2 chez les donneurs de sang marocains de groupe sanguin AB–contribution de 527G>A SNP
2017 · Transfusion Clinique et Biologique
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
2016 · Journal of Clinical Immunology · استُشهد به 33 مرة
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
2016 · European Journal of Medical Genetics · استُشهد به 26 مرة
Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report
2016 · Current Research in Translational Medicine · استُشهد به 16 مرة
Novel variants of mitochondrial DNA associated with Type 2 diabetes mellitus in Moroccan population
2016 · Mitochondrial DNA Part A · استُشهد به 9 مرة
Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK)
2016 · Current Research in Translational Medicine · استُشهد به 4 مرة
Expression faible des A2 chez les donneurs de sang marocains de groupe sanguin AB - apport de 527G > A SNPs
2016 · Transfusion Clinique et Biologique
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
2015 · PLoS ONE · استُشهد به 25 مرة
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
2015 · Gene · استُشهد به 20 مرة
Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients
2015 · BMC Cancer · استُشهد به 19 مرة
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population
2015 · Human Mutation · استُشهد به 16 مرة
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
2015 · BMC Neurology · استُشهد به 9 مرة
Association analysis of APOA5 rs662799 and rs3135506 polymorphisms with obesity in Moroccan patients
2015 · Pathologie Biologie · استُشهد به 7 مرة
Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss
2013 · Gene · استُشهد به 8 مرة

مجلات النشر

Human Heredity × 2
PLoS ONE × 2
Transfusion Clinique et Biologique × 2
Current Research in Translational Medicine × 2
Gene × 2
Human Genetics × 1

المنشورات حسب السنة

20261
20251
20231
20211
20192
20177
20166
20156
20131

التعاون العلمي

المؤسسات الشريكة : University of Hassan II Casablanca · Centre Hospitalier Universitaire Ibn Rochd · Institut Pasteur · Université Hassan II Mohammedia · Inserm

بلدان المؤلفين المشاركين : فرنسا

المؤلفون المشاركون

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).