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Nature Communications|March 17, 2023
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3Giulia Cova, Juliane Glaser, Robert Schöpflin, et al.
Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Blood|November 7, 2012
Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutationVittorio Rosti, Laura Villani, Roberta Riboni, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new casesFrancesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, et al.
Neurology. Genetics|March 17, 2021
Detailed Clinical and Psychological Phenotype of the X-linked HNRNPH2-Related Neurodevelopmental DisorderJennifer M Bain, Olivia Thornburg, Cheryl Pan, et al.
British Journal of Haematology|May 27, 2015
Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemiaMelissa Mantelli, Maria Antonia Avanzini, Vittorio Rosti, et al.
Brain : a Journal of Neurology|September 24, 2013
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
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