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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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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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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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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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