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Human Mutation|February 27, 2008
6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4Daniel Janke, Sherif Mehralivand, Dennis Strand, et al.European Neuropsychopharmacology : the Journal of the European College of Neuropsychopharmacology|November 28, 2015
Replication of the association between CHRNA4 rs1044396 and harm avoidance in a large population-based sampleKatharina Bey, Leonhard Lennertz, Sebastian Markett, et al.Stroke|November 10, 2016
Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media ThicknessNicole Heßler, Marie Henrike Geisel, Stefan Coassin, et al.Genes|October 23, 2021
A Homozygous <i>AKNA</i> Frameshift Variant Is Associated with Microcephaly in a Pakistani FamilySyeda Seema Waseem, Abubakar Moawia, Birgit Budde, et al.The Journal of Molecular Diagnostics : JMD|April 10, 2022
Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted SequencingNikolai Tschernoster, Florian Erger, Patrick R Walsh, et al.Nature Genetics|June 16, 2009
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infectionMarco Henneke, Simone Diekmann, Andreas Ohlenbusch, et al.Molecular Genetics and Genomics : MGG|December 23, 2016
CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephalySalil K Sukumaran, Maria Stumpf, Sarah Salamon, et al.Proceedings of the National Academy of Sciences of the United States of America|March 13, 2013
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structureChristian Beetz, Adam Johnson, Amber L Schuh, et al.Nature Genetics|January 29, 2013
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humansMaureen Wirschell, Heike Olbrich, Claudius Werner, et al.Archives of Disease in Childhood. Fetal and Neonatal Edition|June 16, 2019
Genetic background of high blood pressure is associated with reduced mortality in premature neonatesWolfgang Göpel, Mirja Müller, Heike Rabe, et al.Pageof 52