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Acta Paediatrica (Oslo, Norway : 1992)|July 26, 2008
Cardiomyopathy in newborns and infants: a broad spectrum of aetiologies and poor prognosisAndrea Badertscher, Urs Bauersfeld, Urs Arbenz, et al.
Prenatal Diagnosis|June 21, 2008
Monochorionic-diamniotic twins discordant in gender from a naturally conceived pregnancy through postzygotic sex chromosome loss in a 47,XXY zygoteNicolas H Zech, Josef Wisser, Giancarlo Natalucci, et al.
European Journal of Human Genetics : EJHG|December 4, 2004
Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndromeEva Wey, Deborah Bartholdi, Mariluce Riegel, et al.
European Journal of Human Genetics : EJHG|July 10, 2014
An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidiesBernhard Steiner, Rahim Masood, Kaspar Rufibach, et al.
American Journal of Medical Genetics. Part A|July 2, 2003
Newborn with malformations and a combined duplication of 9pter-q22 and 16q22-qter resulting from unbalanced segregation of a complex maternal translocationAdriana Piram, Daniela Ortolan, Luis Cesar Peres, et al.
Molecular Cytogenetics|November 27, 2014
Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotypeMariluce Riegel, Lilia Ma Moreira, Layla D Espirito Santo, et al.
European Journal of Medical Genetics|December 19, 2006
Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrationsNataliya A Tyshchenko, Mariluce Riegel, Elena G Evseenkova, et al.
Molecular Cytogenetics|April 12, 2012
Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicismCaroline Robberecht, Thierry Voet, Gülen E Utine, et al.
Human Mutation|April 27, 2004
Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicingChristian A Hübner, Barbara Utermann, Sigrid Tinschert, et al.
American Journal of Medical Genetics. Part A|December 14, 2007
Characterization of interstitial Xp duplications in two families by tiling path array CGHAndreas Tzschach, Wei Chen, Fikret Erdogan, et al.
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