Showing results (41-50 of 52) with videos related to
Sort By:
Pageof 6
European Journal of Medical Genetics|September 2, 2008
Mild mental retardation in a child with a de novo interstitial deletion of 15q21.2q22.1: a comparison with previously described casesSergio Tempesta, Danila Sollima, Sara Ghezzo, et al.European Journal of Human Genetics : EJHG|July 24, 2008
Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotypeMaria Clara Bonaglia, Roberto Ciccone, Giorgio Gimelli, et al.European Journal of Human Genetics : EJHG|July 20, 2007
Guidelines for molecular karyotyping in constitutional genetic diagnosisJoris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, et al.European Journal of Human Genetics : EJHG|May 23, 2014
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platformErika Della Mina, Roberto Ciccone, Francesca Brustia, et al.BMC Genomics|December 2, 2008
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathiesMatteo Bovolenta, Marcella Neri, Sergio Fini, et al.Human Mutation|March 11, 2015
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL AssociationAnnalisa Vetro, Maria Iascone, Ivan Limongelli, et al.Proceedings of the National Academy of Sciences of the United States of America|January 11, 2017
Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblastsErika Della Mina, Alessandro Borghesi, Hao Zhou, et al.European Journal of Human Genetics : EJHG|August 26, 2010
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri, Alex R Paciorkowski, Roberto Ciccone, et al.Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.European Journal of Human Genetics : EJHG|January 21, 2011
The phenotype of recurrent 10q22q23 deletions and duplicationsBregje W M van Bon, Jorune Balciuniene, Gary Fruhman, et al.Pageof 6