Publications by authors named "Imen Rejeb"

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Oculomotor Findings in Spinocerebellar Ataxia 27B: A Case Series.
Guillemette Clément, Salomé Puisieux, Catherine Ashton, David Pellerin, Matt C Danzi, Imen Ben Rejeb

Can J Neurol Sci· December 2024

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Managing scorpion envenomations: A Gabes emergency department case study of 60 patients.
Amine Hamdaoui, Houcemeddine Turki, Taha Lassoued, Amal Samet, Imen Rejeb

Tunis Med· September 2024

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Genome Tunisia Project: paving the way for precision medicine in North Africa.
Yosr Hamdi, Mediha Trabelsi, Kais Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Imen Rejeb

Genome Med· August 2024

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Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes and .
Syrine Hizem, Rym Maamouri, Anissa Zaouak, Imen Rejeb, Sana Karoui

Ophthalmic Genet· February 2024

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A novel variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
Rym Maamouri, Syrine Hizem, Ines Kammoun, Yasmina Elaribi, Imen Rejeb

Ophthalmic Genet· June 2023

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Man-O-War simulator: a Low-cost manikin for training on chest tube management.
Abdennour Nasri, Mouna Jerbi, Rim Karray, Haifa Snoussi, Amal Samet, Imen Rejeb

Afr J Emerg Med· June 2023

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Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Ali Al Kaissi, Sergey Ryabykh, Nabil Nassib, Sami Bouchoucha, Lamia Benjemaa, Imen Rejeb

Diagnostics (Basel)· September 2022

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A rare homozygous p.Arg87Trp variant of the gene in Gaucher disease: A case report.
Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Yasmina Elaribi, Syrine Hizem

Clin Case Rep· May 2022

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Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem

Mol Genet Genomic Med· October 2021

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New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi

BMC Med Genomics· June 2021

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Stroke knowledge among emergency centre visitors: A cross-sectional multicenter survey.
Olfa Chakroun-Walha, Amal Samet, Marwa Ben Abdallah, Sana Benmansour, Fadhila Issaoui, Imen Rejeb

Afr J Emerg Med· March 2021

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Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.
Syrine Hizem, Yasmina Elaribi, Sana Ben Slama, Kawther Dimassi, Houweyda Jilani, Imen Rejeb

Clin Chim Acta· February 2021

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First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila

BMC Med Genet· November 2017

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Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.
Ons Azzabi, Houweyda Jilani, Imen Rejeb, Nadia Siala, Yasmina Elaribi

J Pediatr Endocrinol Metab· June 2016

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Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
Julia Lauer Zillhardt, Karine Poirier, Loïc Broix, Nicolas Lebrun, Adrienne Elmorjani, Imen Rejeb

Eur J Hum Genet· April 2016

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Epidemiological features of stress hyperglycemia in elderly at emergency department.
Olfa Chakroun-Walha, Imen Rejeb, Mariem Boujelben, Anis Chaari, Hichem Ksibi

Tunis Med· February 2016

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Prediction value of the Canadian CT head rule and the New Orleans criteria for positive head CT scan and acute neurosurgical procedures in minor head trauma: a multicenter external validation study.
Wahid Bouida, Soudani Marghli, Sami Souissi, Hichem Ksibi, Mehdi Methammem, Imen Rejeb

Ann Emerg Med· May 2013

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A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.
Imen Rejeb, Lamia Ben Jemaa, Leila Abaied, Lilia Kraoua, Yoann Saillour

Eur J Med Genet· September 2011

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The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.
Manèl Chograni, Imen Rejeb, Lamia Ben Jemaa, Myriam Châabouni, Habiba Chaabouni Bouhamed

Eur J Hum Genet· August 2011

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Subtelomeric microduplications in three sisters with moderate mental retardation.
Lamia Hila, Hedia Tébourbi, Leila Abeid, Imen Rejeb, Habiba Chaabouni

Biochem Genet· December 2010

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X linked mental retardation.
Imen Rejeb, Lamia Ben Jemaa, Habiba Chaabouni

Tunis Med· May 2009

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A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
Imen Rejeb, Yoann Saillour, Laetitia Castelnau, Cédric Julien, Thierry Bienvenu

Eur J Hum Genet· November 2008

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