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American Journal of Medical Genetics. Part A|November 22, 2013
CEP57 mutation in a girl with mosaic variegated aneuploidy syndromeLucile Pinson, Linda Mannini, Marjolaine Willems, et al.
Prenatal Diagnosis|March 12, 2022
Extending the prenatal Noonan's phenotype by review of ultrasound and autopsy dataAudrey Lamouroux, Coralie Dauge, Constance Wells, et al.
Annals of Clinical and Translational Neurology|July 26, 2023
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!Heidy Baide-Mairena, Arthur Coget, Nicolas Leboucq, et al.
Oncotarget|September 13, 2015
IL-1β produced by aggressive breast cancer cells is one of the factors that dictate their interactions with mesenchymal stem cells through chemokine productionPauline Escobar, Céline Bouclier, Julien Serret, et al.
BMC Medical Genomics|August 4, 2019
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case reportKevin Yauy, Anouck Schneider, Bee Ling Ng, et al.
European Journal of Human Genetics : EJHG|January 4, 2023
CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel casesLottie D Morison, Olivia van Reyk, Elana Forbes, et al.
European Journal of Medical Genetics|July 15, 2018
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sistersMarion Imbert-Bouteille, Frédéric Tran Mau Them, Julien Thevenon, et al.
Molecular Genetics & Genomic Medicine|October 12, 2018
Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectivesPierre Vande Perre, Daniel Toledano, Carole Corsini, et al.
American Journal of Medical Genetics. Part A|December 21, 2013
Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneityFrédéric Tran Mau-Them, Aurélia Boualam, Mouna Barat-Houari, et al.
European Journal of Human Genetics : EJHG|May 26, 2005
Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficultiesDavid Geneviève, Damien Sanlaville, Laurence Faivre, et al.
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