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A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
Adnane Karkar
,
Abdelhamid Barakat
,
Amina Bakhchane
,
Houda Fettah
,
Ilham Slassi
,
et al.
Journal articles
inserm-01264481v1
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Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD)
Imen Dorboz
,
Eléonore Eymard-Pierre
,
Rym Kefi
,
Sonia Abdelhak
,
Najoua Miladi
,
et al.
Journal articles
istex
pasteur-01375329v1
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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.
Journal articles
pasteur-01060192v1
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Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen Dorboz
,
Hélène Dumay-Odelot
,
Karima Boussaid
,
Yosra Bouyacoub
,
Pauline Barreau
,
et al.
Journal articles
pasteur-02000258v1
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Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population
Nizar Ben Halim
,
Imen Dorboz
,
Rym Kefi
,
Najla Kharrat
,
Eléonore Eymard-Pierre
,
et al.
Journal articles
pasteur-01374976v1
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