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The Journal of Investigative Dermatology|April 4, 2013
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain lengthKatja-Martina Eckl, Rotem Tidhar, Holger Thiele, et al.
Nature Medicine|November 3, 2009
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathyDavid Hassel, Tillman Dahme, Jeanette Erdmann, et al.
Nature Neuroscience|December 7, 2010
Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafnessShahid M Baig, Alexandra Koschak, Andreas Lieb, et al.
The Journal of Clinical Investigation|May 5, 2010
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeInga Ebermann, Jennifer B Phillips, Max C Liebau, et al.
Plos One|May 17, 2011
Benchmarking of mutation diagnostics in clinical lung cancer specimensSilvia Querings, Janine Altmüller, Sascha Ansén, et al.
International Journal of Cancer|December 23, 2014
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomasIsabel Spier, Stefanie Holzapfel, Janine Altmüller, et al.
American Journal of Human Genetics|March 12, 2004
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)Francesca Donaudy, Rik Snoeckx, Markus Pfister, et al.
Nature Genetics|November 16, 2021
Chromothripsis followed by circular recombination drives oncogene amplification in human cancerCarolina Rosswog, Christoph Bartenhagen, Anne Welte, et al.
Nature Genetics|January 13, 2009
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismFrank Rutsch, Susann Gailus, Isabelle R Miousse, et al.
Drug and Alcohol Dependence|August 28, 2024
Polygenic risk scores for nicotine use and family history of smoking are associated with smoking behaviourJerome C Foo, Maja P Völker, Fabian Streit, et al.
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