Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Maria J. Knip"'
Autor:
Melissa C. Chubak, Kevin C. J. Nixon, Max H. Stone, Nicholas Raun, Shelby L. Rice, Mohammed Sarikahya, Spencer G. Jones, Taylor A. Lyons, Taryn E. Jakub, Roslyn L. M. Mainland, Maria J. Knip, Tara N. Edwards, Jamie M. Kramer
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 3 (2019)
Technology has led to rapid progress in the identification of genes involved in neurodevelopmental disorders such as intellectual disability (ID), but our functional understanding of the causative genes is lagging. Here, we show that the SWI/SNF chro
Externí odkaz:
https://doaj.org/article/a1eef28601164a75ab26472f6bf35270
Autor:
Tara N. Edwards, Spencer G. Jones, Maria J. Knip, Nicholas Raun, Max H. Stone, Shelby L. Rice, Mohammed Sarikahya, Melissa C. Chubak, Taryn E. Jakub, Kevin C J Nixon, Roslyn L. M. Mainland, Jamie M. Kramer, Taylor A. Lyons
Publikováno v:
Disease Models & Mechanisms
Disease Models & Mechanisms, Vol 12, Iss 3 (2019)
Disease Models & Mechanisms, Vol 12, Iss 3 (2019)
Technology has led to rapid progress in the identification of genes involved in neurodevelopmental disorders such as intellectual disability (ID), but our functional understanding of the causative genes is lagging. Here, we show that the SWI/SNF chro
Autor:
Maria J. Knip, Nicholas Raun, Taylor A. Lyons, Max H. Stone, Taryn E. Jakub, Jamie M. Kramer, Mohammed Sarikahya, Shelby L. Rice, Spencer G. Jones, Roslyn L. M. Mainland, Melissa C. Chubak, Tara N. Edwards
Technology has led to rapid progress in the identification of genes involved in neurodevelopmental disorders like intellectual disability (ID), but our functional understanding of the causative genes is lagging. Here, we show that the SWI/SNF chromat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c11e5ceaaad6cbd72f529c8cc2a3bbe9
https://doi.org/10.1101/408500
https://doi.org/10.1101/408500
Autor:
Seyed M. Mirsattari, Sali M.K. Farhan, Michelle Everest, Maria J. Knip, C. Anthony Rupar, Michael O. Poulter, Jian Wang, Kevin C J Nixon, Victoria Mok Siu, Rana Chakrabarti, Tara N. Edwards, Dmitri Segal, Robert A. Hegele, Heleen H. Arts, Donald H. Lee, John F. Robinson, Shirley Q. Long, Jamie M. Kramer
Publikováno v:
Paediatrics Publications
Human Molecular Genetics
Human Molecular Genetics
Defects in neuronal migration cause brain malformations, which are associated with intellectual disability (ID) and epilepsy. Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b48e7a66afe70fa12348eb634bca682d
https://ir.lib.uwo.ca/paedpub/100
https://ir.lib.uwo.ca/paedpub/100