Showing results (21-30 of 55) with videos related to

Sort By:
Pageof 6
Fetal Diagnosis and Therapy|September 3, 2020
First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical StudyKarl Oliver Kagan, Markus Hoopmann, Theresa Pfaff, et al.
Human Mutation|June 22, 2005
A rapid microarray based whole genome analysis for detection of uniparental disomyOzge Altug-Teber, Andreas Dufke, Sven Poths, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular levelJohn C K Barber, Viv Maloney, Edward J Hollox, et al.
European Journal of Human Genetics : EJHG|May 8, 2014
Genome-wide UPD screening in patients with intellectual disabilityChristopher Schroeder, Arif Bülent Ekici, Ute Moog, et al.
Human Mutation|March 17, 2004
Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsySusanna Ranta, Meral Topcu, Saara Tegelberg, et al.
NPJ Genomic Medicine|March 15, 2024
Genomes in clinical careOlaf Riess, Marc Sturm, Benita Menden, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardationUte Grasshoff, Michael Bonin, Ina Goehring, et al.
American Journal of Medical Genetics. Part A|July 6, 2010
The face of Noonan syndrome: Does phenotype predict genotypeJudith E Allanson, Axel Bohring, Helmuth-Guenther Dörr, et al.
Molecular Cytogenetics|March 16, 2018
Parental origin of deletions and duplications - about the necessity to check for cryptic inversionsThomas Liehr, Isolde Schreyer, Alma Kuechler, et al.
Genome Research|March 11, 2008
Mapping translocation breakpoints by next-generation sequencingWei Chen, Vera Kalscheuer, Andreas Tzschach, et al.
Pageof 6