الرئيسية › دليل الباحثين › Halima Nahili
Halima Nahili
الانتماء : Institut Pasteur du Maroc
- 29منشورات (انتماء مغربي)
- 29مجموع المنشورات
- 381الاستشهادات
- 13مؤشر h
الملف البحثي
لدى Halima Nahili 29 منشور(ات) مفهرسة (2007–2024). تُنشر أعماله أساسًا في «International Journal of Pediatric Otorhinolaryngology»، «Clinica Chimica Acta» و«Molecular Biology Reports». أكثر مقالاته استشهادًا هو «AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men» (2007)، وقد استُشهد به 55 مرة. 6 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 منشوراتيمجالات البحث
- Hearing, Cochlea, Tinnitus, Genetics
- Genomics and Rare Diseases
- Congenital Ear and Nasal Anomalies
- Hearing Loss and Rehabilitation
- Hereditary Neurological Disorders
المنشورات (29)
- Optimizing diagnosis of neuromuscular diseases by high-throughput sequencing: Genetic characterization and classification of sequence variants
- GNE Myopathy and Duchenne Muscular Dystrophy in Two Moroccans Families
- Novel variant in Moroccan patient with hereditary spastic paraplegia type 35
- A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability
- Association between G2677T/A polymorphism in ABCB1 gene and the risk of drug resistance epilepsy: An updated systematic review and meta-analysis
- Identification of novel mutations by targeted next-generation sequencing in Moroccan families clinically diagnosed with a neuromuscular disorder
- First characterization of congenital myasthenic syndrome type 5 in North Africa
- Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder
- Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human RRM2B Gene: A Molecular Modeling Study
- First characterization of LHON pedigrees in North Africa
- Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease
- Computational analysis of damaging nsSNP in human STXBP1 gene involved in early infantile epileptic encephalopathy: Molecular modelling and dynamics study
- A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family
- Methylenetetrahydrofolate Reductase Gene Polymorphisms (C677T and A1298C) and Hemorrhagic Stroke in Moroccan Patients
- Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome
- Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss
- 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.
- The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility
- Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss
- 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
- Prevalence of the mitochondrial A 1555G mutation in Moroccan patients with non-syndromic hearing loss
- Carrier Frequencies of Mutations/Polymorphisms in the Connexin 26 Gene ( GJB2 ) in the Moroccan Population
- Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness
- The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population
- AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men
- GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2–35delG mutation
مجلات النشر
- International Journal of Pediatric Otorhinolaryngology × 4
- Clinica Chimica Acta × 2
- Molecular Biology Reports × 2
- BioMed Research International × 2
- Gene × 2
- PLoS ONE × 2
المنشورات حسب السنة
- 20241
- 20232
- 20223
- 20212
- 20202
- 20192
- 20183
- 20171
- 20152
- 20132
التعاون العلمي
المؤسسات الشريكة : Institut Pasteur · University of Hassan II Casablanca · Chouaib Doukkali University · Inserm · Université d'Angers
بلدان المؤلفين المشاركين : فرنسا
المؤلفون المشاركون
- Abdelhamid Barakat
- Hassan Rouba
- Redouane Boulouiz
- Omar Abidi
- Majida Charif
- Hicham Charoute
- Rachida Roky
- Abdelaziz Chafik
- Mostafa Kandil
- Al Mehdi Krami
- Najat Sifeddine
- Aymane Bouzidi
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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