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Molecular and Cellular Pediatrics|August 16, 2020
Osteogenesis imperfecta-pathophysiology and therapeutic optionsJulia Etich, Lennart Leßmeier, Mirko Rehberg, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|December 3, 2013
A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onsetHeike Hoyer-Kuhn, Oliver Semler, Lutz Garbes, et al.Human Genetics|January 20, 2009
New genetic evidence for involvement of the dopamine system in migraine with auraUnda Todt, Christian Netzer, Mohammad Toliat, et al.American Journal of Medical Genetics. Part A|June 3, 2017
A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndromeVera Riehmer, Florian Erger, Peter Herkenrath, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 2, 2006
Haplotype-based systematic association studies of ATP1A2 in migraine with auraChristian Netzer, Unda Todt, Axel Heinze, et al.Human Genomics|June 11, 2026
An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosisAngelika Bolte, Clara Velmans, Christian Netzer, et al.European Neurology|December 19, 2008
Novel KRIT1 mutation and no molecular evidence of anticipation in a family with cerebral and spinal cavernous malformationsJens Kuhn, Tim H Brümmendorf, Ute Brassat, et al.Genomics|May 6, 2008
Replication study of the insulin receptor gene in migraine with auraChristian Netzer, Jan Freudenberg, Axel Heinze, et al.Plos One|January 30, 2010
Analysis of compound synergy in high-throughput cellular screens by population-based lifetime modelingMartin Peifer, Jonathan Weiss, Martin L Sos, et al.Ophthalmology Science|February 20, 2024
Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRBAntonia Howaldt, Sandrine Lenglez, Clara Velmans, et al.Pageof 6