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Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
Asma Chikhaoui
,
Ichraf Kraoua
,
Nadège Calmels
,
Sami Bouchoucha
,
Cathy Obringer
,
et al.
2022
Preprints, Working Papers, ...
pasteur-03548783v1
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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy
Claire Pujol
,
Elise Lebigot
,
Pauline Gaignard
,
Said Galai
,
Ichraf Kraoua
,
et al.
Journal articles
pasteur-03934309v1
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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
,
Claire S. Leblond
,
Mariem Hamza
,
Béatrice Regnault
,
Laure Lemee
,
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
,
Zied Riahi
,
Cherine Charfeddine
,
Imen Chelly
,
Hela Boudabbous
,
et al.
Journal articles
pasteur-04072687v1
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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B
Khouloud Zayoud
,
Ichraf Kraoua
,
Asma Chikhaoui
,
Nadège Calmels
,
Sami Bouchoucha
,
et al.
Journal articles
hal-03477990v1
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