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European Journal of Human Genetics : EJHG|June 10, 2011
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmusJamal Ghoumid, Joris Andrieux, Bernard Sablonnière, et al.
European Journal of Medical Genetics|April 11, 2015
Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalitiesSorina M Papuc, Karl Hackmann, Joris Andrieux, et al.
Annales D'Endocrinologie|November 1, 2015
Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family reportGuillaume Jedraszak, Karine Braun, Aline Receveur, et al.
American Journal of Medical Genetics. Part A|August 10, 2013
De novo 15q13.3 microdeletion with cryptogenic West syndromeElodie Lacaze, Nicolas Gruchy, Marie-José Penniello-Valette, et al.
Leukemia Research|May 3, 2005
Irregular nuclear shape of bone marrow plasma cells defines a multiple myeloma subgroup related to hypodiploidy and to short survivalXavier Leleu, Franck Genevieve, Romain Guieze, et al.
Annals of Hematology|July 11, 2006
Long-term outcome in acquired aplastic anemia treated with an intensified dose schedule of horse antilymphocyte globulin in combination with androgensXavier Leleu, Louis Terriou, Alain Duhamel, et al.
European Journal of Medical Genetics|February 15, 2011
Characterization of sSMC by FISH and molecular techniquesFrenny Sheth, Joris Andrieux, Elisabeth Ewers, et al.
European Journal of Human Genetics : EJHG|February 14, 2013
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disabilityReza Asadollahi, Beatrice Oneda, Frenny Sheth, et al.
American Journal of Medical Genetics. Part A|April 12, 2017
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletionMinh Tuan Huynh, Elise Boudry-Labis, Bénédicte Duban, et al.
European Journal of Medical Genetics|September 17, 2016
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephalyKeiko Shimojima, Satoshi Narai, Masami Togawa, et al.
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