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American Journal of Human Genetics|October 9, 2002
The DNA-based structure of human chromosome 5 in interphaseJohannes Lemke, Jan Claussen, Susanne Michel, et al.Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation|May 28, 2017
Inversion 3 Cytogenetic Abnormality in an Allogeneic Hematopoietic Cell Transplant Recipient Representative of a Donor-Derived Constitutional AbnormalityAjoy Dias, Aref Al-Kali, Daniel Van Dyke, et al.Human Mutation|August 19, 2006
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutationsWiktor Borozdin, Ana M Bravo Ferrer Acosta, Michael J Bamshad, et al.Ebiomedicine|August 27, 2022
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case seriesSimone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, et al.The Journal of Experimental Medicine|November 5, 2016
--LUBAC deficiency perturbs TLR3 signaling to cause immunodeficiency and autoinflammationJulia Zinngrebe, Eva Rieser, Lucia Taraborrelli, et al.Cell Death & Disease|April 20, 2018
The novel TRAIL-receptor agonist APG350 exerts superior therapeutic activity in pancreatic cancer cellsKaren Legler, Charlotte Hauser, Jan-Hendrik Egberts, et al.Cell Death and Differentiation|September 18, 2021
Potent pro-apoptotic combination therapy is highly effective in a broad range of cancersAntonella Montinaro, Itziar Areso Zubiaur, Julia Saggau, et al.Journal of Neurology|July 20, 2024
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)Anne S Schmitz, Janani Raju, Wolfgang Köhler, et al.Cancers|June 2, 2021
A Prospective Feasibility Trial to Challenge Patient-Derived Pancreatic Cancer Organoids in Predicting Treatment ResponseAlica K Beutel, Lena Schütte, Jeanette Scheible, et al.American Journal of Human Genetics|December 9, 2017
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait AbnormalitiesSonja Martin, Adam Chamberlin, Deepali N Shinde, et al.Pageof 6