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Methods in Molecular Biology (Clifton, N.J.)|March 19, 2010
Laboratory methods for the detection of chromosomal abnormalitiesJacqueline Schoumans, Claudia RuivenkampEuropean Journal of Human Genetics : EJHG|October 21, 2004
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndromeJacqueline Schoumans, Ann Nordgren, Claudia Ruivenkamp, et al.European Journal of Human Genetics : EJHG|February 21, 2008
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platformsZhong-Fa Zhang, Claudia Ruivenkamp, Johan Staaf, et al.European Journal of Medical Genetics|March 3, 2009
Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotypeJosephine Wincent, Astrid Schulze, Jacqueline SchoumansEuropean Journal of Medical Genetics|October 28, 2009
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delayJosephine Wincent, Jacqueline Schoumans, Britt Marie AnderlidActa Haematologica|February 27, 2023
Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 RearrangementsVasiliki Papadopoulou, Jacqueline Schoumans, Ilaria Scarpelli, et al.American Journal of Medical Genetics. Part A|February 11, 2005
Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3)Jacqueline Schoumans, Gunnar Sanner, Magnus Nordenskjöld, et al.European Journal of Medical Genetics|July 7, 2009
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalitiesAnna Bremer, Jacqueline Schoumans, Magnus Nordenskjöld, et al.Cells, Tissues, Organs|January 28, 2006
Long-term culture of human urothelial cells--a qualitative analysisMagdalena Fossum, Fredrik Lundberg, Kerstin Holmberg, et al.BMC Research Notes|November 3, 2011
Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patientHåkan Thonberg, Marie Fallström, Jenny Björkström, et al.Pageof 11