Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Hormone Research in Paediatrics|August 26, 2011
Molecular karyotyping: from microscope to SNP arraysAntoinet C J Gijsbers, Claudia A L Ruivenkamp
American Journal of Medical Genetics. Part A|August 16, 2014
A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation familySetareh Moghadasi, Arie van Haeringen, Lieke Langendonck, et al.
European Journal of Medical Genetics|June 13, 2008
A 400kb duplication, 2.4Mb triplication and 130kb duplication of 9q34.3 in a patient with severe mental retardationAntoinet C J Gijsbers, Emilia K Bijlsma, Marjan M Weiss, et al.
European Journal of Medical Genetics|September 28, 2010
A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomaliesMireille M L van Diepen, Antoinet C J Gijsbers, Cathy A J Bosch, et al.
European Journal of Medical Genetics|September 15, 2012
Molecular and clinical characterization of patients with a ring chromosome 11Kerstin B M Hansson, Antoinet C J Gijsbers, Wilma Oostdijk, et al.
European Journal of Medical Genetics|June 15, 2010
Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypesAntoinet C J Gijsbers, Cathy A J Bosch, Johannes G Dauwerse, et al.
European Journal of Medical Genetics|June 14, 2011
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocationAntoinet C J Gijsbers, Johannes G Dauwerse, Cathy A J Bosch, et al.
European Journal of Human Genetics : EJHG|May 14, 2009
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays firstAntoinet C J Gijsbers, Janet Y K Lew, Cathy A J Bosch, et al.
Human Genetics|October 28, 2008
Identification of copy number variants associated with BPES-like phenotypesAntoinet C J Gijsbers, Barbara D'haene, Yvonne Hilhorst-Hofstee, et al.
Pageof 2