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Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
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Lamia Cherif Ben Abdallah
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Chokri Naouali
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Saida Lahbib
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Zinet Turki
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et al.
Journal articles
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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
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Claire S. Leblond
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Mariem Hamza
,
Béatrice Regnault
,
Laure Lemee
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et al.
Journal articles
pasteur-01948341v1
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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
,
Cherine Charfeddine
,
Imen Chelly
,
Hela Boudabbous
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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
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Nadia Laroussi
,
Crystel Bonnet
,
Lilia Romdhane
,
et al.
Journal articles
pasteur-03219630v1
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