|
|
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
|
|
|
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
|
|
|
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD
Yassine Naasse
,
Amina Bakhchane
,
Hicham Charoute
,
Farida Jennane
,
Joelle Bignon-Topalovic
,
et al.
Journal articles
pasteur-03521891v1
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Y-chromosome AZFc structural architecture and relationship to male fertility
Celia Ravel
,
Sandra Chantot-Bastaraud
,
Brahim El Houate
,
Hassan Rouba
,
Marie Legendre
,
et al.
Journal articles
inserm-04133897v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies
Marie-France Portnoi
,
Marie-Charlotte Dumargne
,
Sandra Rojo
,
Selma F Witchel
,
Andrew J Duncan
,
et al.
Journal articles
hal-02018306v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Y-Chromosome Analysis in Egypt Suggests a Genetic Regional Continuity in Northeastern Africa
Franz Manni
,
Pascal Leonardi
,
Abdelhamid Barakat
,
Hassan Rouba
,
Evelyne Heyer
,
et al.
Journal articles
hal-03183353v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|