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Stem Cell Research|August 4, 2019
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variantJens Schuster, Maria Sobol, Ambrin Fatima, et al.International Journal of Hematology|August 11, 2020
Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningoceleTalia Akram, Ambrin Fatima, Joakim Klar, et al.Journal of Human Genetics|August 9, 2008
A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontiaMahmood Rasool, Jens Schuster, Muhammad Aslam, et al.Cellular Reprogramming|September 9, 2015
Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease ModelingJens Schuster, Jonatan Halvardson, Laureanne Pilar Lorenzo, et al.Communications Biology|May 26, 2021
A combined approach for single-cell mRNA and intracellular protein expression analysisJohan Reimegård, Marcel Tarbier, Marcus Danielsson, et al.Neurobiology of Disease|August 25, 2019
Transcriptomes of Dravet syndrome iPSC derived GABAergic cells reveal dysregulated pathways for chromatin remodeling and neurodevelopmentJens Schuster, Loora Laan, Joakim Klar, et al.Journal of Medical Genetics|July 5, 2015
Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicansJoakim Klar, Jens Schuster, Tahir Naeem Khan, et al.Neurogenetics|January 13, 2011
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptomsJens Schuster, Jimmy Sundblom, Ann-Charlotte Thuresson, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|February 7, 2014
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6Michaela B C Kilander, Julian Petersen, Kjetil Wessel Andressen, et al.Neuroscience Research|September 21, 2025
Abnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndromeRopafadzo Mzezewa, Tanja Hyvärinen, Oskari Kulta, et al.Pageof 6