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American Journal of Medical Genetics. Part A|June 15, 2011
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeMark C Hannibal, Kati J Buckingham, Sarah B Ng, et al.Nature Communications|August 28, 2019
Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran ProgramJacklyn N Hellwege, Digna R Velez Edwards, Ayush Giri, et al.Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.American Journal of Respiratory and Critical Care Medicine|February 27, 2014
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotypeMichael R Knowles, Lawrence E Ostrowski, Margaret W Leigh, et al.American Journal of Human Genetics|February 17, 2015
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delayJessica X Chong, Margaret J McMillin, Kathryn M Shively, et al.Arxiv|October 14, 2024
How to Build the Virtual Cell with Artificial Intelligence: Priorities and OpportunitiesCharlotte Bunne, Yusuf Roohani, Yanay Rosen, et al.Nature Methods|May 11, 2022
A hybrid open-top light-sheet microscope for versatile multi-scale imaging of cleared tissuesAdam K Glaser, Kevin W Bishop, Lindsey A Barner, et al.Cell|December 13, 2024
How to build the virtual cell with artificial intelligence: Priorities and opportunitiesCharlotte Bunne, Yusuf Roohani, Yanay Rosen, et al.Circulation. Cardiovascular Genetics|January 30, 2015
Exome sequencing in suspected monogenic dyslipidemiasNathan O Stitziel, Gina M Peloso, Marianne Abifadel, et al.Medrxiv : the Preprint Server for Health Sciences|October 7, 2020
Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington StateNicola F Müller, Cassia Wagner, Chris D Frazar, et al.Pageof 47