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Clinical Case Reports|May 11, 2018
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocationsJulie Coton, Audrey Labalme, Marianne Till, et al.
American Journal of Medical Genetics. Part A|April 8, 2015
RPL10 mutation segregating in a family with X-linked syndromic Intellectual DisabilityJulien Thevenon, Caroline Michot, Christine Bole, et al.
Molecular Syndromology|December 13, 2017
Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting <i>IL1RAPL1</i>Nicolas Chatron, Lucie Thibault, James Lespinasse, et al.
Scientific Reports|November 20, 2018
Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescentsRandi Hagerman, Sebastien Jacquemont, Elizabeth Berry-Kravis, et al.
American Journal of Medical Genetics. Part A|January 22, 2004
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 geneVincent des Portes, Nathalie Boddaert, Silvia Sacco, et al.
American Journal of Medical Genetics|October 12, 2002
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessmentMarie Gomot, Nathalie Ronce, Sabine Dessay, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 22, 2018
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?Marie-Laure Mathieu, Julitta de Bellescize, Marianne Till, et al.
Molecular Genetics and Metabolism Reports|November 14, 2019
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanismMarie Faoucher, Anne-Lise Poulat, Nicolas Chatron, et al.
Annals of Neurology|February 6, 2009
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjectsCatherine Vaurs-Barrière, Marlène Deville, Catherine Sarret, et al.
Mitochondrion|August 10, 2010
POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndromeBénédicte Mousson de Camaret, Maïté Chassagne, Martine Mayençon, et al.
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