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Syrine Hizem

Observed names: Hizem Syrine, Hizem, Syrine, S Hizem
ORCID: 0000-0002-7720-1279
Observed ORCID: 0000-0002-7720-1279
OpenAlex ID: A5074519916
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
2017 · Imen Rejeb, Houweyda Jilani, et al. · BMC Medical Genetics · 23
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Genome Tunisia Project: paving the way for precision medicine in North Africa
2024 · Yosr Hamdi, Mediha Trabelsi, et al. · Genome Medicine · 16
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Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients
2018 · Fatma Abdelhedi, Céline Chalas, et al. · Journal of Assisted Reproduction and Genetics · 16
In vitrofunctional characterization of the novelDHHmutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis
2018 · Asma Tajouri, Maher Kharrat, et al. · Human Mutation · 13
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New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene
2021 · Imen Rejeb, Mouna Jerbi, et al. · BMC Medical Genomics · 11
Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome
2016 · Ons Azzabi, Houweyda Jilani, et al. · Journal of Pediatric Endocrinology and Metabolism · 7
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis
2017 · Asma Tajouri, Dorsaf Ben Gaied, et al. · Sexual Development · 5
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
2022 · Houweyda Jilani, Faten Hsoumi, et al. · Clinical Case Reports · 4
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
2021 · Hela Sassi, Yasmina Elaribi, et al. · Molecular Genetics & Genomic Medicine · 4
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Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities
2022 · Ali Al Kaissi, Sergey Ryabykh, et al. · Diagnostics · 3
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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 TP63 and CNGB3
2023 · Syrine Hizem, Rym Maamouri, et al. · Ophthalmic Genetics · 2
Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing
2020 · Syrine Hizem, Yasmina Elaribi, et al. · Clinica Chimica Acta · 2
Turner Syndrome: results of the first Tunisian study group on Turner Syndrome (TuSGOT)
2023 · Leila Essaddam, Ons Zitouni, et al. · Journal of Pediatric Endocrinology and Metabolism · 1
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
2022 · Rym Maamouri, Syrine Hizem, et al. · Ophthalmic Genetics · 1
The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study
2021 · Mohammad Shboul, Hela Sassi, et al. · AIMS molecular science · 1
Oculo-dento-digital Dysplasia in a Tunisian Family With a Novel Gja1 Mutation.
2016 · A Attig, M Trabelsi, et al. · PubMed · 1
Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients
2026 · Amal Abdmouleh, Houweyda Jilani, et al. · Clinical Genetics
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Toward a Tunisian genetic mapping of idiopathic pulmonary fibrosis
2026 · senda derouiche, Houda Snène, et al. · European Respiratory Journal
Spectrum of Genetic Variants in Hereditary Breast and Ovarian Cancer Syndrome in Tunisian Patients: A Clinical Study with Literature Review
2026 · Yasmina Elaribi, Walid Ben Yedder, et al. · La Tunisie Médicale
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From the Gene to the Molecule: A case report of leukodystrophy type 18 and targeted therapy
2024 · Agerbi Feriel, Karoui Sana, et al.
Cinical and genetic profile of syndromic epilepsies in a series of tunisian patients: contribution of exome sequencing
2024 · Feriel Agrebi, KAROUI, Sana, et al.
Diagnosis and Management of invdupdel(8p) Syndrome in a Tunisian Patient characterized by Chromosomal Microarray Analysis
2024 · Feriel Agrebi, Syrine Hizem, et al.
Nouvelle variation du gène RB1 à l’origine d’une forme familiale de rétinoblastome
2023 · Feriel Agrebi, Elaribi, Yasmina, et al.
Intérêt du séquençage de l’exome entier devant un tableau neurologique paucisymptomatique
2023 · Feriel Agrebi, Karoui, Sana, et al.
Apport du séquençage de l'exome entier dans le diagnostic des maladies de surcharge en glycogène : à propos d'un cas
2023 · F Agrebi, S Hizem, et al.
Works count: 29
Citation count: 110
H-index: 6
I10-index: 5
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