Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364
Administrative institutions
Université de Lille
CHU Lille
Recent Submissions
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RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront
Genetics in Medicine, Nature Publishing Group, 10-09-2024, 26 (12), 101266Article dans une revue scientifique -
Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome
Genetics in Medicine, Nature Publishing Group, 09-09-2024, 26 (12), 101267Article dans une revue scientifique -
Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading
Acta Neuropathologica Communications, BioMed Central part of Springer Science, 10-11-2019, 7, 176Article dans une revue scientifiquefulltext -
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye
European Journal of Human Genetics, Nature Publishing Group, 21-11-2022, 31, 526–530Article dans une revue scientifique -
Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency
Biochimie, Elsevier, 21-07-2022, 201, 196-203Article dans une revue scientifique -
Epidemiology of Pediatric Hand Surgery Emergencies. Retrospective Study of 245 Patients Seen over 10 Months in Two Referral Centers
Orthopaedics & Traumatology: Surgery & Research, Elsevier, 17-09-2021, 108 (1), 103067Article dans une revue scientifique -
Expanding the KIF4A-associated phenotype
American Journal of Medical Genetics Part A, Wiley, 03-08-2021, 185 (12), 3728-3739Article dans une revue scientifiquefulltext -
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder
Clinical Genetics, Wiley, 01-07-2021, 100 (4), 396-404Article dans une revue scientifique -
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genet Med, 16-04-2021, 23, 1484-1491Article dans une revue scientifiquefulltext -
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
J Pediatr, 24-11-2021, 242, 192-200Article dans une revue scientifiquefulltext