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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
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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
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Chokri Naouali
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Olfa Messaoud
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Meriem Jones
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Yosra Bouyacoub
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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
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Ahlem Amouri
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Marwa Sayeb
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Saloua Makni
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Wajih Hammami
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et al.
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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
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Zied Riahi
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Cherine Charfeddine
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Imen Chelly
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Hela Boudabbous
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et al.
Journal articles
pasteur-04072687v1
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