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American Journal of Medical Genetics. Part A|April 23, 2015
A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reductionEmilie Landais, Camille Leroy, Pascale Kleinfinger, et al.
American Journal of Medical Genetics. Part A|November 19, 2009
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGHJoris Andrieux, Christèle Dubourg, Marlène Rio, et al.
European Journal of Medical Genetics|September 30, 2008
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardationMartine Doco-Fenzy, Emilie Landais, Joris Andrieux, et al.
Human Molecular Genetics|April 26, 2013
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowthLionel Van Maldergem, Qingming Hou, Vera M Kalscheuer, et al.
Human Genetics|August 26, 2021
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locusUirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
European Journal of Medical Genetics|November 25, 2010
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardationChristèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, et al.
European Journal of Human Genetics : EJHG|October 18, 2012
The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patientsCamille Leroy, Emilie Landais, Sylvain Briault, et al.
American Journal of Medical Genetics. Part A|October 5, 2022
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndromeGuillaume Jouret, Matthieu Egloff, Emilie Landais, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGHCéline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, et al.
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