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American Journal of Medical Genetics. Part A|October 4, 2011
Common structural features characterize interstitial intrachromosomal Xp and 18q triplicationsRoberto Giorda, Silvana Beri, M Clara Bonaglia, et al.
European Journal of Medical Genetics|September 4, 2013
Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 geneBaran Bayindir, Elena Piazza, Erika Della Mina, et al.
European Journal of Medical Genetics|March 13, 2012
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlationMaria Piccione, Ettore Piro, Francesca Serraino, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 30, 2020
Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutationsAntonio Gatto, Paolo Mariotti, Domenico Umberto De Rose, et al.
European Journal of Medical Genetics|October 23, 2012
5p13 microduplication syndrome: a new case and better clinical definition of the syndromeFrancesca Novara, Enrico Alfei, Stefano D'Arrigo, et al.
European Journal of Medical Genetics|December 5, 2006
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndromeMaria Addis, Cristiana Meloni, Rita Congiu, et al.
European Journal of Medical Genetics|January 30, 2008
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variantMaria Clara Bonaglia, Roberto Giorda, Silvana Beri, et al.
Human Genetics|June 2, 2009
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhoodFrancesca Novara, Silvana Beri, Maria Ester Bernardo, et al.
American Journal of Medical Genetics. Part A|January 17, 2020
Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotypeAngela Peron, Francesca Novara, Francesca La Briola, et al.
Human Genetics|September 1, 2005
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?Manuela De Gregori, Tiziano Pramparo, Luigi Memo, et al.
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