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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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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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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
Rahma Mkaouar
,
Lamia Cherif Ben Abdallah
,
Chokri Naouali
,
Saida Lahbib
,
Zinet Turki
,
et al.
Journal articles
pasteur-03521812v1
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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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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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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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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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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
Zied Riahi
,
Crystel Bonnet
,
Rim Zainine
,
Saida Lahbib
,
Yosra Bouyacoub
,
et al.
Journal articles
pasteur-01221041v1
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
Zied Riahi
,
Crystel Bonnet
,
Rim Zainine
,
Malek Louha
,
Yosra Bouyacoub
,
et al.
Journal articles
pasteur-01060192v1
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Viva Europa, a Land of Excellence in Research and Innovation for Health and Wellbeing
Charles Auffray
,
Michael Sagner
,
Sonia Abdelhak
,
Ian Adcock
,
Alvar Agusti
,
et al.
Journal articles
pasteur-04097586v1
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Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis
Mariem Ben Rekaya
,
Chokri Naouali
,
Olfa Messaoud
,
Meriem Jones
,
Yosra Bouyacoub
,
et al.
Journal articles
hal-01876284v1
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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome
Abir Ben Haj Ali
,
Ahlem Amouri
,
Marwa Sayeb
,
Saloua Makni
,
Wajih Hammami
,
et al.
Journal articles
pasteur-03263632v1
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Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology
Saida Lahbib
,
Claire S. Leblond
,
Mariem Hamza
,
Béatrice Regnault
,
Laure Lemee
,
et al.
Journal articles
pasteur-01948341v1
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
Rahma Mkaouar
,
Zied Riahi
,
Cherine Charfeddine
,
Imen Chelly
,
Hela Boudabbous
,
et al.
Journal articles
pasteur-04072687v1
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A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene
Marwa Sayeb
,
Zied Riahi
,
Nadia Laroussi
,
Crystel Bonnet
,
Lilia Romdhane
,
et al.
Journal articles
pasteur-03219630v1
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Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
Cherine Charfeddine
,
Mourad Mokni
,
Selma Kassar
,
Hela Zribi
,
Chiraz Bouchlaka
,
et al.
Journal articles
pasteur-01375261v1
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