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Acta Neuropathologica Communications|June 7, 2021
Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variantsFlorent Marguet, Myriam Vezain, Pascale Marcorelles, et al.Supportive Care in Cancer : Official Journal of the Multinational Association of Supportive Care in Cancer|July 7, 2018
Early platelet variation during concomitant chemo-radiotherapy predicts adjuvant temozolomide-induced thrombocytopenia in newly diagnosed glioblastoma patientsMaxime Fontanilles, Florent Marguet, Cristina Alexandru, et al.Journal of Medical Genetics|September 15, 2020
De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypesDana Jaber, Cyril Gitiaux, Sophie Blesson, et al.European Journal of Medical Genetics|January 7, 2016
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathyAnnie Laquerriere, Marie Gonzales, Yoann Saillour, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|June 24, 2008
Nephroangiosclerosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: is NOTCH3 mutation the common culprit?Dominique Guerrot, Arnaud François, Jean-Jacques Boffa, et al.Obesity (Silver Spring, Md.)|February 12, 2011
Hemojuvelin: a new link between obesity and iron homeostasisNathalie Luciani, Carole Brasse-Lagnel, Maura Poli, et al.The Journal of Pediatrics|April 7, 2012
Fatal rhabdomyolysis in 2 children with LPIN1 mutationsJean Bergounioux, Anais Brassier, Caroline Rambaud, et al.Journal of Neuropathology and Experimental Neurology|April 11, 2017
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 MutationsAnnie Laquerriere, Camille Maillard, Mara Cavallin, et al.Acta Neuropathologica Communications|December 5, 2019
Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomasAlice Goldenberg, Florent Marguet, Vianney Gilard, et al.Cancer Genetics|April 13, 2013
MYC and MYCN amplification can be reliably assessed by aCGH in medulloblastomaFranck Bourdeaut, Camille Grison, Claude-Alain Maurage, et al.Pageof 4