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American Journal of Ophthalmology Case Reports|April 29, 2024
Wagner syndrome: Novel VCAN variant and prophylactic management with encircling band and retinopexyYsé Borella, Claire-Marie Dhaenens, Olivier Grunewald, et al.
International Journal of Neonatal Screening|October 19, 2020
The Reliable, Automatic Classification of Neonates in First-Tier MALDI-MS Screening for Sickle Cell DiseaseMarven El Osta, Pierre Naubourg, Olivier Grunewald, et al.
International Journal of Neonatal Screening|October 19, 2020
A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS PlatformPierre Naubourg, Marven El Osta, David Rageot, et al.
Ophthalmic Genetics|March 29, 2026
A novel case of Heimler syndrome in a young child with compound heterozygous PEX26 mutations: clinical and genetic insights with literature reviewAurore Aziz, Tristan Bernard-Cuisinier, Daniele Denis, et al.
Investigative Ophthalmology & Visual Science|September 2, 2025
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function CorrelationJoan Bitan, Anaïs F Poncet, Claire Lecigne, et al.
International Journal of Molecular Sciences|June 19, 2024
Novel and Recurrent Copy Number Variants in ABCA4-Associated RetinopathyZelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|January 14, 2025
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport SyndromeMarie-Sophie Pagniez, Victor Fages, Clémence Gatinois, et al.
Clinical Genetics|December 21, 2022
ROSAH syndrome mimicking chronic uveitisChristine Fardeau, Munirah Alafaleq, Claire-Marie Dhaenens, et al.
Kidney International Reports|May 6, 2024
Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant DetectionVictor Fages, Florentin Bourre, Romain Larrue, et al.
Clinical Chemistry and Laboratory Medicine|April 10, 2018
Immunoglobulin G (IgG) and IgG subclass reference intervals in children, using Optilite® reagentsOlivier Grunewald, Benjamin Lopez, Séverine Brabant, et al.
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