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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.
Majdi Nagara
,
Gregory Papagregoriou
,
Rim Ben Abdallah
,
Zied Landoulsi
,
Yosra Bouyacoub
,
et al.
Journal articles
hal-01876288v1
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Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population
Sahar Elouej
,
Insaf Rejeb
,
Redha Attaoua
,
Majdi Nagara
,
Om Kalthoum Sallem
,
et al.
Journal articles
hal-01356539v1
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Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients
Chiraz Bouchlaka
,
Chokri Maktouf
,
Bahri Mahjoub
,
Abdelkarim Ayadi
,
M. Tahar Sfar
,
et al.
Journal articles
pasteur-01375225v1
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A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family
Majdi Nagara
,
Konstantinos Voskarides
,
Sahar Elouej
,
Apostolos Zaravinos
,
Zied Riahi
,
et al.
Journal articles
hal-01358526v1
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Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
Zied Landoulsi
,
Sawssan Benromdhan
,
Mouna Ben Djebara
,
Mariem Damak
,
Hamza Dallali
,
et al.
Journal articles
pasteur-01639043v1
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Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child
Rym Benmously-Mlika
,
Anissa Zaouak
,
Ridha Mrad
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Nadia Laaroussi
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Sonia Abdelhak
,
et al.
Journal articles
istex
pasteur-01375053v1
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Mucosal human papillomavirus detection and TP53 immunohistochemical expression in non‐melanoma skin cancer in Tunisian patients
Ines Ben Ayed
,
Haifa Tounsi
,
Amira Jaballah
,
Monia Ardhaoui
,
Afifa Maaloul
,
et al.
Journal articles
pasteur-03540700v1
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Specific aspects of consanguinity: some examples from the tunisian population.
Lilia Romdhane
,
Nizar Ben Halim
,
Insaf Rejeb
,
Rym Kefi
,
Yosra Bouyacoub
,
et al.
Journal articles
pasteur-01061190v1
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Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart Syndrome.
Yosra Bouyacoub
,
Hela Zribi
,
Hatem Azzouz
,
Fehmi Nasrallah
,
Rim Ben Abdelaziz
,
et al.
Journal articles
pasteur-00861205v1
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Adult gaucher disease in southern Tunisia: report of three cases.
Faten Ben Rhouma
,
Faten Kallel
,
Rym Kefi
,
Wafa Cherif
,
Majdi Nagara
,
et al.
Journal articles
pasteur-00682183v1
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Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Farah Ouechtati
,
Ahlem Merdassi
,
Yosra Bouyacoub
,
Leila Largueche
,
Kaouther Derouiche
,
et al.
Journal articles
pasteur-00604858v1
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Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report
Hamza Dallali
,
Nadia Kheriji
,
Wafa Kammoun
,
Mehdi Mrad
,
Manel Soltani
,
et al.
Journal articles
pasteur-03553851v1
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Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases
Sami Bouchoucha
,
Asma Chikhaoui
,
Dorra Najjar
,
Hamza Dallali
,
Maleke Khammessi
,
et al.
Journal articles
pasteur-03561607v1
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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family
Cherine Charfeddine
,
Hamza Dallali
,
Ghaith Abdessalem
,
Kais Ghedira
,
Yosr Hamdi
,
et al.
Journal articles
pasteur-03261809v1
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Novel MED12 variant in a multiplex Fragile X syndrome family: dual molecular etiology of two X-linked intellectual disabilities with autism in the same family
Saida Lahbib
,
Mediha Trabelsi
,
Hamza Dallali
,
Rania Sakka
,
Rym Bourourou
,
et al.
Journal articles
pasteur-03565723v1
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Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
Sonia Nouira
,
Fatma Ouarda
,
Cherine Charfeddine
,
Imen Arfa
,
Houyem Ouragini
,
et al.
Journal articles
istex
pasteur-00612166v1
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Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
Asma Chikhaoui
,
Ichraf Kraoua
,
Nadège Calmels
,
Sami Bouchoucha
,
Cathy Obringer
,
et al.
2022
Preprints, Working Papers, ...
pasteur-03548783v1
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Genetic Analysis of TREM2 Variants in Tunisian Patients with Alzheimer's Disease
Zied Landoulsi
,
Mouna Ben djebara
,
Imen Kacem
,
Youssef Sidhom
,
Rym Kefi
,
et al.
Journal articles
pasteur-01990539v1
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Branched-Chain Amino Acid Database Integrated in MEDIPAD Software as a Tool for Nutritional Investigation of Mediterranean Populations
Sara Haydar
,
Thomas Paillot
,
Christophe Fagot
,
Yannick Cogne
,
Athanasios Fountas
,
et al.
Journal articles
pasteur-01989178v1
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Autism in Phenylketonuria Patients: From Clinical Presentation to Molecular Defects
Sameh Khemir
,
Soumaya Halayem
,
Hatem Azzouz
,
Hajer Siala
,
Maherzia Ferchichi
,
et al.
Journal articles
pasteur-01469443v1
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Screening of three Mediterranean phenylketonuria mutations in Tunisian families
Sameh Khemir
,
Hajer Siala
,
Sameh Hadj Taieb
,
Wafa Cherif
,
Hatem Azzouz
,
et al.
Journal of Genetics, 2012, 91 (1), pp.91-94
Journal articles
hal-01358543v1
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Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
Imen Dorboz
,
Eléonore Eymard-Pierre
,
Rym Kefi
,
Sonia Abdelhak
,
Najoua Miladi
,
et al.
Journal articles
istex
pasteur-01375329v1
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Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity
Nizar Ben Halim
,
Majdi Nagara
,
Béatrice Regnault
,
Sana Hsouna
,
Khaled Lasram
,
et al.
Journal articles
pasteur-01375019v1
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A Tunisian patient with two rare syndromes: triple a syndrome and congenital hypogonadotropic hypogonadism.
Lamia Ben Abdallah
,
Youssef Lakhoua
,
Majdi Nagara
,
Karima Khiari
,
Sahar Elouej
,
et al.
Journal articles
pasteur-01375104v1
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Type 2 diabetes in Mauritania: Prevalence of the undiagnosed diabetes, influence of family history and maternal effect
Ghlana Meiloud
,
Imen Arfa
,
Rym Kefi
,
Isselmou Abdelhamid
,
Fatimetou Veten
,
et al.
Journal articles
pasteur-01375112v1
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High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia
Wafa Cherif
,
Faten Ben Rhouma
,
Habib Messai
,
Amira Mili
,
Moez Gribaa
,
et al.
Journal articles
pasteur-01375145v1
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Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
Lina Basel-Vanagaite
,
Bruno Dallapiccola
,
Ramiro Ramirez-Solis
,
Alexandra Segref
,
Holger Thiele
,
et al.
Journal articles
pasteur-01375146v1
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Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations
Yosra Ben Halima
,
Rym Kefi
,
Marco Sazzini
,
Cristina Giuliani
,
Sara de Fanti
,
et al.
Journal articles
pasteur-01636913v1
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Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome
Nehla Ghedira
,
Arnaud Lagarde
,
Karim Ben Ameur
,
Sahar Elouej
,
Rania Sakka
,
et al.
Journal articles
pasteur-01882965v1
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Heterozygous manifestations in female carriers of Mal de Meleda
M. Mokni
,
C. Charfeddine
,
R Ben Mously
,
D Baccouche
,
B. Kaabi
,
et al.
Journal articles
istex
pasteur-02051789v1
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