Syrine Hizem

Tunis, Tunisia

Last Updated: 09/26/2026

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Found 13 publications

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Journal: Ophthalmic genetics

Published: May 09, 2023

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Journal: Ophthalmic genetics

Published: September 12, 2022

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.

Journal: Diagnostics (Basel, Switzerland)

Published: August 17, 2022

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 15, 2022

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Journal: Clinical case reports

Published: August 21, 2021

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.

Journal: Molecular genetics & genomic medicine

Published: April 28, 2021

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 11, 2020

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

Journal: BMC medical genomics

Published: October 01, 2020

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis.

Journal: Human mutation

Published: July 06, 2018

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: April 13, 2017

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Journal: BMC medical genetics

Published: March 24, 2017

OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION.

OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION.

Journal: Genetic counseling (Geneva, Switzerland)

Published: January 01, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026