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Mitochondrion|April 20, 2007
Infantile and pediatric quinone deficiency diseasesAgnès Rötig, Julie Mollet, Marlène Rio, et al.
Journal of Stomatology, Oral and Maxillofacial Surgery|April 13, 2021
Computational diagnostic methods on 2D photographs: A review of the literatureQuentin Hennocq, Roman Hossein Khonsari, Vincent Benoît, et al.
Human Mutation|June 7, 2017
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsyKarine Poirier, Laurence Hubert, Géraldine Viot, et al.
Science (New York, N.Y.)|August 27, 2011
MED23 mutation links intellectual disability to dysregulation of immediate early gene expressionSatoru Hashimoto, Sarah Boissel, Mohammed Zarhrate, et al.
Proteomics. Clinical Applications|February 3, 2015
MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresisStéphanie Yen-Nicolaÿ, Céline Boursier, Marlène Rio, et al.
European Journal of Medical Genetics|November 29, 2023
New description of an MRPS2 homozygous patient: Further features to help expend the phenotypeThalia Papadopoulos, Pauline Gaignard, Manuel Schiff, et al.
Human Molecular Genetics|December 20, 2018
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein bS1m in a patient with intrauterine growth retardation, craniofacial dysmorphism and multisystemic involvementJuliette Pulman, Benedetta Ruzzenente, Lucas Bianchi, et al.
Human Mutation|September 26, 2018
Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosisBenedetta Ruzzenente, Zahra Assouline, Giulia Barcia, et al.
BMC Psychiatry|October 23, 2015
Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorderAnne Philippe, Yann Craus, Marlène Rio, et al.
Advances in Experimental Medicine and Biology|December 30, 2019
Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered SplicingIris Barny, Isabelle Perrault, Marlène Rio, et al.
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