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authIdHal_s : ken-mcelreavey

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.
European Journal of Medical Genetics, 2018, 61 (1), pp.1--7. ⟨10.1016/j.ejmg.2017.10.002⟩
Journal articles hal-01876288v1

Specific aspects of consanguinity: some examples from the tunisian population.

Lilia Romdhane , Nizar Ben Halim , Insaf Rejeb , Rym Kefi , Yosra Bouyacoub , et al.
Human Heredity, 2014, 77 (1-4), pp.167-74. ⟨10.1159/000362167⟩
Journal articles pasteur-01061190v1
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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.
Frontiers in Genetics, 2021, 12, pp.665174. ⟨10.3389/fgene.2021.665174⟩
Journal articles pasteur-03521812v1

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.
Sexual Development, 2017, 11 (5-6), pp.269-274. ⟨10.1159/000485393⟩
Journal articles pasteur-03521891v1
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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.
PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩
Journal articles pasteur-01060192v1
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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.
Annals of Dermatology, 2017, 29 (2), pp.243-246. ⟨10.5021/ad.2017.29.2.243⟩
Journal articles hal-01534741v1

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 of Dermatological Science, 2018, 89 (2), pp.172--180. ⟨10.1016/j.jdermsci.2017.10.015⟩
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.
Molecular Genetics & Genomic Medicine, 2019, 7 (7), pp.e00694. ⟨10.1002/mgg3.694⟩
Journal articles pasteur-03263632v1
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Y-chromosome AZFc structural architecture and relationship to male fertility

Celia Ravel , Sandra Chantot-Bastaraud , Brahim El Houate , Hassan Rouba , Marie Legendre , et al.
Fertility and Sterility, 2009, 92 (6), pp.1924-1933. ⟨10.1016/j.fertnstert.2008.08.135⟩
Journal articles inserm-04133897v1
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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.
Human Molecular Genetics, 2018, 27 (7), pp.1228-1240. ⟨10.1093/hmg/ddy037⟩
Journal articles hal-02018306v1

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.
Human Biology, 2002, 74 (5), pp.645-658. ⟨10.1353/hub.2002.0054⟩
Journal articles hal-03183353v1