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Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 28, 2012
Uniparental disomy: can SNP array data be used for diagnosis?Tracy Tucker, Kamilla Schlade-Bartusiak, Patrice Eydoux, et al.American Journal of Medical Genetics. Part A|May 19, 2009
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomaliesFarah R Zahir, Sylvie Langlois, Kim Gall, et al.Journal of Neurosurgery. Pediatrics|May 2, 2012
Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infantMichael M H Yang, Ash Singhal, Shahrad Rod Rassekh, et al.American Journal of Perinatology|October 3, 2007
Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literatureGregor W Kaczala, Kenneth J Poskitt, Paul Steinbok, et al.Cardiology in the Young|October 9, 2002
Isolated non-compaction of the myocardium diagnosed in the fetus: two sporadic and two familial casesClaudia Moura, Yvette Hillion, Farida Daikha-Dahmane, et al.American Journal of Medical Genetics. Part A|August 14, 2012
BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)Kamilla Schlade-Bartusiak, Lindsay Brown, Brenda Lomax, et al.European Journal of Medical Genetics|February 19, 2013
Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9pKamilla Schlade-Bartusiak, Tracy Tucker, Holly Safavi, et al.American Journal of Medical Genetics. Part A|July 5, 2016
Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disordersKaren Y Niederhoffer, Somayyeh Fahiminiya, Patrice Eydoux, et al.American Journal of Medical Genetics. Part A|March 27, 2014
A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short statureLindsay A Brown, Rosemarie Rupps, Maria S Peñaherrera, et al.Human Reproduction (Oxford, England)|June 12, 2004
How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme)Patrice Eydoux, François Thepot, Florence Fellmann, et al.Pageof 4