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Clinical Dysmorphology|August 20, 2019
SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variationMaude Grelet, Jérémie Mortreux, Emilie Alazard, et al.
NDT Plus|May 19, 2015
Hypokalaemia and dysmorphia, is there a link?Stéphane Burtey, Damien Sternberg, Karine Nguyen, et al.
European Journal of Medical Genetics|March 5, 2013
Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twinsCornel Popovici, Tiffany Busa, Chantal Missirian, et al.
American Journal of Medical Genetics. Part A|September 24, 2017
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndromeTiffany Busa, Mohammed Jeraiby, Alix Clémenson, et al.
American Journal of Medical Genetics. Part A|September 15, 2005
Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three familiesB Chabrol, N Girard, K N'Guyen, et al.
American Journal of Medical Genetics. Part A|September 12, 2019
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologiesLinda Mouthon, Tiffany Busa, Florence Bretelle, et al.
American Journal of Medical Genetics. Part A|March 25, 2004
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestationsFabienne Giuliano, Albert David, Patrick Edery, et al.
European Journal of Human Genetics : EJHG|June 26, 2002
Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disordersRafaëlle Bernard, Amandine Boyer, Philippe Nègre, et al.
American Journal of Medical Genetics. Part A|June 1, 2011
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic featuresGaetan Lesca, Marianne Till, Audrey Labalme, et al.
European Journal of Medical Genetics|July 28, 2010
Prenatal and postnatal diagnosis of 22q11.2 deletion syndromeFlorence Bretelle, Laura Beyer, Marie Christine Pellissier, et al.
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