Search - Institut Pasteur Access content directly

Filter your results

5 Results
authFullName_s : Ichraf Kraoua
Image document

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
Image document

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

Claire Pujol , Elise Lebigot , Pauline Gaignard , Said Galai , Ichraf Kraoua , et al.
Brain - A Journal of Neurology , 2022, pp.awac444. ⟨10.1093/brain/awac444⟩
Journal articles pasteur-03934309v1

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 of Applied Genetics, 2018, ⟨10.1007/s13353-018-0472-3⟩
Journal articles pasteur-01948341v1
Image document

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.
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
Journal articles pasteur-04072687v1
Image document

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.
Genes, 2021, 12 (12), pp.1922. ⟨10.3390/genes12121922⟩
Journal articles hal-03477990v1