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Nature Genetics|January 29, 2015
Using iPSCs and genomics to catch CNVs in the actAlexander Eckehart Urban, Carolin PurmannAmerican Journal of Human Genetics|August 19, 2007
DLX5 and DLX6 expression is biallelic and not modulated by MeCP2 deficiencyBirgitt Schüle, Hong Hua Li, Claudia Fisch-Kohl, et al.Journal of Psychiatric Research|March 28, 2017
Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)Gillian Reierson, Jon Bernstein, Wendy Froehlich-Santino, et al.Nature Communications|December 19, 2018
Local and global chromatin interactions are altered by large genomic deletions associated with human brain developmentXianglong Zhang, Ying Zhang, Xiaowei Zhu, et al.Nature|December 8, 2009
Large, rare chromosomal deletions associated with severe early-onset obesityElena G Bochukova, Ni Huang, Julia Keogh, et al.Biological Psychiatry|September 13, 2020
Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced NeuronsSiming Zhang, Xianglong Zhang, Carolin Purmann, et al.Science (New York, N.Y.)|February 24, 2022
Hyperexcitable arousal circuits drive sleep instability during agingShi-Bin Li, Valentina Martinez Damonte, Chong Chen, et al.Proceedings of the National Academy of Sciences of the United States of America|July 23, 2024
Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpointsBo Zhou, Carolin Purmann, Hanmin Guo, et al.Human Molecular Genetics|June 6, 2009
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadismAdam J de Smith, Carolin Purmann, Robin G Walters, et al.Proceedings of the National Academy of Sciences of the United States of America|May 26, 2021
Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neuronsChangHui Pak, Tamas Danko, Vincent R Mirabella, et al.Pageof 2