Loss of RUBCN causes autophagy overdrive in a neurodevelopmental disorder with age-dependent neurodegeneration
Stéphanie Efthymiou, Keisuke Tabata, Hormos Salimi Dafsari, Emil Schober et autres
0 citationsmedRxiv
J. Lespinasse
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8Publications signalées
32Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersChromosomal and Genetic VariationsAutophagy in Disease and Therapy
Publications récentes
Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements
F. Girard, Sylvie Jaillard, Boris Keren, J. Lespinasse et autres
0 citationsHAL (Le Centre pour la Communication Scientifique Directe)
Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations
C. Schluth-Bolard, F. Diguet, P. A. Rollat-Farnier, J. Amiel et autres
0 citationsHAL (Le Centre pour la Communication Scientifique Directe)
Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey
Mathilde Lefebvre, Damien Sanlaville, Nathalie Marle, Christel Thauvin‐Robinet et autres
14 citationsClinical Genetics
Contents Vol. 4, 2013
Martin Poot, E. Burgdörfer, M. Korenkov, Dávid Jónás et autres
0 citationsMolecular Syndromology
Instructions for the preparation of gene mapping reports
Catharina Larsson, G. Weber, Kjell Öberg, Britt Skogseid et autres
1 citationCytogenetics and Cell Genetics
Erratum
Catharina Larsson, Günther Weber, Kjell Öberg, Britt Skogseid et autres
2 citationsCytogenetics and Cell Genetics
Two unrelated patients with inversions of the X chromosome and non-specific mental retardation: physical and transcriptional mapping of their common breakpoint region in Xq13.1
Laurent Villard, Sylvain Briault, Anne-Marie Lossi, Christine Paringaux et autres
15 citationsJournal of Medical Genetics
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