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Lamia Sfaihi

Observed names: L Sfaihi, L. Sfaihi, L. Sfaihi Ben Mansour, L. Sfaihi ben Mansour, Lamia Ben Mansour Sfaihi, Lamia Sfaihi Ben Mansour, Lamia Sfaihi Ben-Mansour, Lamia Sfaihi-Ben Mansour, Sfaihi L, Sfaihi L.., Sfaihi Lamia, Sfaihi, L., Sfaihi, Lamia
ORCID: 0000-0003-4480-5313
Observed ORCID: 0000-0003-4480-5313
OpenAlex ID: A5001177573
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations
2009 · Alessandra Pangrazio, Michael Pusch, et al. · Human Mutation · 87
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Febrile seizures: an epidemiological and outcome study of 482 cases
2012 · Lamia Sfaihi, Ines Maaloul, et al. · Child s Nervous System · 51
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome
2016 · Fakhri Kallabi, Neila Belghuith, et al. · Archives of Medical Research · 32
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
2018 · Rahma Felhi, Lamia Sfaihi, et al. · Clinica Chimica Acta · 23
Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 Genes
2012 · Cécile Martel, Michelle Mollin, et al. · Journal of Clinical Immunology · 23
Adverse reactions due to the bacillus Calmette-Guerin vaccine: Twenty Tunisian cases
2018 · Khadija Sellami, Meriem Amouri, et al. · Indian Journal of Dermatology · 19
Hemolytic Anemia and Progressive Neurologic Impairment: Think About Triosephosphate Isomerase Deficiency
2014 · Khaoula Aissa, Fatma Kamoun, et al. · Fetal and Pediatric Pathology · 17
Neonatal purulent meningitis in southern Tunisia: Epidemiology, bacteriology, risk factors and prognosis
2015 · Fatma Kamoun, Mashuma Bibi Dowlut, et al. · Fetal and Pediatric Pathology · 16
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression
2017 · Nourhen Agrebi, Lamia Sfaihi Ben-Mansour, et al. · Journal of Allergy and Clinical Immunology · 14
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[Bacterial meningitis in children: epidemiological data and outcome].
2014 · Lamia Sfaihi, Fatma Kamoun, et al. · PubMed · 12
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene
2016 · Rahma Felhi, Emna Mkaouar-Rebai, et al. · Biochemical and Biophysical Research Communications · 10
Arterial ischemic stroke in children: 22 cases from southern Tunisia
2013 · Lamia Sfaihi, Sana Elloumi, et al. · Fetal and Pediatric Pathology · 10
Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
2016 · Salma Ben Ameur, Caroline Silve, et al. · Hormone Research in Paediatrics · 9
Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases
2020 · Rahma Felhi, Majida Charif, et al. · Molecular Biology Reports · 8
Chylomicron retention disease: A rare cause of chronic diarrhea
2016 · S. Ben Ameur, H. Aloulou, et al. · Archives de Pédiatrie · 8
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene
2016 · Marwa Ammar, Mouna Tabebi, et al. · Biochemical and Biophysical Research Communications · 7
Resistant Invasive Aspergillosis in an Autosomal Recessive Chronic Granulomatous Disease
2012 · Lamia Sfaihi, Ines Maaloul, et al. · Fetal and Pediatric Pathology · 7
[Therapeutic management and clinical course of severe caustic oesophageal burns in children treated with methyl-prednisolone. Experience at a digestive endoscopic unit].
2004 · Sonia Mazigh Mrad, Samir Boukthir, et al. · PubMed · 7
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome
2023 · Rahma Felhi, Lamia Sfaihi, et al. · Metabolic Brain Disease · 6
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Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation
2022 · Marwa Maalej, Lamia Sfaihi, et al. · Neurogenetics · 6
[Primary distal renal tubular acidosis in children in the South of Tunisia: study of 15 cases].
2013 · T Kamoun, L Sfaihi, et al. · PubMed · 6
[Cerebral imaging in epileptic children: study of 140 cases].
2014 · Salma Ben Ameur, Hajer Aloulou, et al. · PubMed · 5
[Primary immunodeficiency disorders in 51 cases].
2013 · Sfaihi Lamia, Hajer Aloulou, et al. · PubMed · 5
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases.
2015 · Lamia Sfaihi, Dominique Stoppa Lyonnet, et al. · PubMed · 4
[Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia].
2014 · Lamia Sfaihi, Olfa Kassar, et al. · PubMed · 4
Works count: 106
Citation count: 446
H-index: 10
I10-index: 12
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