الرئيسية › دليل الباحثين › Wafa Bouchaala
Wafa Bouchaala
الانتماء : University of Sfax · Hopital Universitaire Hedi Chaker · Faculty of Medicine of Sfax
- 38منشورات (انتماء تونسي)
- 43مجموع المنشورات
- 57الاستشهادات
- 5مؤشر h
الملف البحثي
لدى Wafa Bouchaala 38 منشور(ات) مفهرسة (2014–2026). تُنشر أعماله أساسًا في «Revue Neurologique»، «European Psychiatry» و«Journal of Human Genetics». أكثر مقالاته استشهادًا هو «Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intell» (2021)، وقد استُشهد به 9 مرة. 7 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في الإمارات.
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إنشاء ملفي المجاني إضافة منشوراتيمجالات البحث
- Epilepsy research and treatment
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Family and Disability Support Research
المنشورات (38)
- A Protocol Towards Best Practice for Ictal-Postictal Assessment in Children and Adolescents with Epilepsy
- A Protocol Towards Best Practice for Ictal-Postictal Assessment in Children and Adolescents with Epilepsy
- Electroclinical and genetic profiling of Tunisian families with malformations of cortical development: report of novel DENND5A mutation, functional DYNC1H/DCX variants and structural correlates
- The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex
- Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies
- Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
- First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view
- A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature
- Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability
- Caregiver burden in parents of children with neurological impairement and its relation with depression
- Moyamoya Angiopathy: An Underdiagnosed Cause of Ischemic Stroke in a Tunisian Pediatric Cohort
- Lessons learned from COVID-19 impact of pandemic on children with neurological disorders in Sfax, Tunisia
- Les hypersomnies de l’enfant : particularités cliniques et thérapeutiques
- Relations entre les anomalies de l’EEG et l’évolution neurodéveloppementale de l’épilepsie partielle bénigne atypique de l’enfant
- Burden level among parents of children with epilepsy
- Burden level among parents of children with epilepsy
- The assessment of family caregivers’ anxiety in pediatric epilepsy : a cross-sectional sudy
- Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly
- Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia
- Opsoclonus myoclonus induced by lamotrigine toxicity
- Acute Demyelinating Syndromes: A report of child neurology department of Sfax University Hospital
- Peripheral neuropathy due to mitochondrial disorders in pediatric patients
- Mitochondrial leucoencephalopathies: An under-diagnosed form of mitochondrial disease
- Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression
- Neurological Nuance: Sporadic Burkitt's Lymphoma Presenting with Guillain–Barre Syndrome
- A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation
- Les conductions nerveuses motrices des membres superieurs chez l’enfant : valeurs normales
- Neurological Manifestations of Sanjad–Sakati Syndrome: New Three Reported Cases from Tunisia
- Brain Tuberculomas as BCGitis Complication Presenting with Epileptic Spasms: A Case Report
- Les complications neurologiques de la maladie de CriglerNajjar
- Le syndrome de Bloch–Sulzberger : quand le diagnostic saute aux yeux
- L’hypertension intracrânienne chez l’enfant : expérience du service de neurologie pédiatrique de Sfax
- EEG patterns and epileptic seizures in acute phase stroke
- Syndrome de West : profil neurocognitif après 10 ans d’évolution
- Syndrome de l’apex orbitaire révélateur d’un myélome multiple
- Thrombose du sinus caverneux secondaire à la mucormycose rhino-cérébrale (à propos de deux observations)
- Anomalies électroencéphalographiques dans les crises fébriles, que doit-on en faire ?
- Céphalées chroniques et retentissement scolaire chez les enfants en âge scolaire dans la région de Sfax (Tunisie)
مجلات النشر
- Revue Neurologique × 9
- European Psychiatry × 4
- Journal of Human Genetics × 3
- Journal of Pediatric Neurology × 3
- International Journal of Innovative Research in Multidisciplinary Education × 2
- International Journal of Developmental Neuroscience × 2
المنشورات حسب السنة
- 20263
- 20251
- 20243
- 20234
- 20226
- 20216
- 20204
- 20195
- 20182
- 20172
التعاون العلمي
المؤسسات الشريكة : Hopital Universitaire Habib Bourguiba · Faculty of Sciences of Sfax · Centre of Biotechnology of Sfax · University of Sharjah
بلدان المؤلفين المشاركين : الإمارات
المؤلفون المشاركون
- Chahnez Triki
- Sihem Ben Nsir
- Fatma F. Kamoun
- Fatma Kammoun
- Faiza Fakhfakh
- Abir Ben Issa
- Salma Zouari Mallouli
- Fatma Kamoun Feki
- Olfa Jallouli
- Rania Zouari
- Emna Fourati
- Akram Zouari
البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).
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