الرئيسية › دليل الباحثين › Majida Charif
Majida Charif
الانتماء : Mohamed I University
- 70منشورات (انتماء مغربي)
- 113مجموع المنشورات
- 1618الاستشهادات
- 23مؤشر h
الملف البحثي
لدى Majida Charif 70 منشور(ات) مفهرسة (2010–2026). تُنشر أعماله أساسًا في «Molecular Biology Reports»، «PLoS ONE» و«Brain Communications». أكثر مقالاته استشهادًا هو «Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies» (2015)، وقد استُشهد به 75 مرة. 21 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا، سنغافورة.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Hereditary Neurological Disorders
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Retinal Development and Disorders
- Metabolism and Genetic Disorders
المنشورات (70)
- Identification of Novel and Known Variants in Epigenetic Genes Associated with Syndromic 46,XY Differences of Sex Development among Moroccan Patients
- Genetic diversity of Usher syndrome in Moroccan patients
- Clinical and Genetic Spectrum of ACO2 -Linked Dominant Optic Atrophy
- Hairy root-derived metabolites from Pelargonium graveolens L′Hér.: Phytochemical insights and cosmeceutical properties
- Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion
- Identification of a novel homozygous RAB3GAP1 variant associated with Warburg micro syndrome type 1 in a Moroccan patient and a literature review
- Additional file 1 of Identification of a novel homozygous RAB3GAP1 variant associated with Warburg micro syndrome type 1 in a Moroccan patient and a literature review
- Identification of a novel homozygous RAB3GAP1 variant associated with Warburg micro syndrome type 1 in a Moroccan patient and a literature review
- Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort
- Pathophysiological insights into ACO2-related inherited disorders through combined functional and multi-omic analyses of ACO2 patient-derived fibroblasts
- Two Cases of ROSAH-Like Syndrome Restricted to the Ophthalmologic Presentation
- Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review
- Novel splice variants implicated in inherited retinal dystrophies in two Moroccan families
- Environmental and genetic interactions underlying the morphological and genetic variability of the red juniper (Juniperus turbinata Guss.) in northeastern Morocco: implications for conservation
- Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis
- The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice
- First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array
- Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment
- Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
- JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco
- Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis
- Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
- Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders
- Population structure and genetic diversity of Moroccan cannabis (Cannabis sativa L.) germplasm through simple sequence repeat (SSR) analysis
- Triple-A Syndrome in Morocco: Founder Effect, Age Estimation of the AAAS c.1331+1G>A Variant, and Implications for Genetic Diagnosis
- Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome
- A novel variant in BMPR1B causes acromesomelic dysplasia Grebe type in a consanguineous Moroccan family: Expanding the phenotypic and mutational spectrum of acromesomelic dysplasias
- A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant
- GNE Myopathy and Duchenne Muscular Dystrophy in Two Moroccans Families
- Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
- Genetic structure and diversity of cannabis (Cannabis sativa L.) populations from northern Morocco through genomic SSR analysis
- Novel variant in Moroccan patient with hereditary spastic paraplegia type 35
- The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
- Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
- A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
- Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco
- Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment
- Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy
- First characterization of LTBP3 variants in two Moroccan families with hypoplastic amelogenesis imperfecta
- Syndromic Hearing Loss in Moroccan families is associated to homozygous missense variants in COL4A3 and MASP1
- DominantACO2mutations are a frequent cause of isolated optic atrophy
- Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
- Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy
- Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy
- Characterization of SSBP1-related optic atrophy and foveopathy
- Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
- ACO2 clinicobiological dataset with extensive phenotype ontology annotation
- Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
- Morocco’s First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges
- A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY
- A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family
- Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
- First characterization of LHON pedigrees in North Africa
- Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion
- Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families
- Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family
- Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
- Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss
- Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
- Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees
- A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
- Analysis of CLDN14 gene in deaf Moroccan patients with non-syndromic hearing loss
- Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss
- Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility
- Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion
- The c.242G>A mutation in LRTOMT gene is responsible for a high prevalence of deafness in the Moroccan population
- Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss
- Maternal Effect and Familial Aggregation in a Type 2 Diabetic Moroccan Population
- Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss
- Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss
مجلات النشر
- Molecular Biology Reports × 4
- PLoS ONE × 4
- Brain Communications × 3
- International Journal of Pediatric Otorhinolaryngology × 3
- Figshare × 2
- Scientific Reports × 2
المنشورات حسب السنة
- 202610
- 20255
- 20246
- 202311
- 20228
- 20217
- 20206
- 20181
- 20173
- 20161
التعاون العلمي
المؤسسات الشريكة : Inserm · Institut Pasteur du Maroc · Centre National de la Recherche Scientifique · Mitochondrial and Cardiovascular Physiopathology · Université d'Angers
بلدان المؤلفين المشاركين : فرنسا · سنغافورة
المؤلفون المشاركون
- Abdelhamid Barakat
- Redouane Boulouiz
- Mohammed Bellaoui
- Saida Lhousni
- Hassan Rouba
- Ghita Amalou
- Meryem Ouarzane
- Halima Nahili
- Mostafa Kandil
- Mounia Elidrissi Errahhali
- Manal Elidrissi Errahhali
- Hicham Charoute
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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