|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification of a novel mutation of LAMB3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing
N. Laroussi
,
O. Messaoud
,
M. Chargui
,
C.B. Fayala
,
A. Elahlafi
,
et al.
Journal articles
hal-01534741v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz
,
Hélène Dumay-Odelot
,
Karima Boussaid
,
Yosra Bouyacoub
,
Pauline Barreau
,
et al.
Journal articles
pasteur-02000258v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
Khouloud Zayoud
,
Ichraf Kraoua
,
Asma Chikhaoui
,
Nadège Calmels
,
Sami Bouchoucha
,
et al.
Journal articles
hal-03477990v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Particular forms of xeroderma pigmentosum and Cockayne syndrome in the Tunisian population
A. Chikhaoui
,
I. Krawa
,
N. Calmels
,
C. Obringer
,
Sahar Elouej
,
et al.
Journal articles
hal-02461446v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|