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Nature Genetics
|
October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Loïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
American Journal of Human Genetics
|
April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Human Mutation
|
November 12, 2014
Variants in CUL4B are associated with cerebral malformations
Anneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
Brain : a Journal of Neurology
|
December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Christopher C Y Mak, Dan Doherty, Angela E Lin, et al.
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of 5
Search research articles
Search
Showing results (41-50 of 44) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 44 results.
Nature Genetics
|
October 4, 2016
Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia
Loïc Broix, Hélène Jagline, Ekaterina Ivanova, et al.
American Journal of Human Genetics
|
April 30, 2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hiromi Hirata, Indrajit Nanda, Anne van Riesen, et al.
Human Mutation
|
November 12, 2014
Variants in CUL4B are associated with cerebral malformations
Anneke T Vulto-van Silfhout, Tadashi Nakagawa, Nadia Bahi-Buisson, et al.
Brain : a Journal of Neurology
|
December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Christopher C Y Mak, Dan Doherty, Angela E Lin, et al.
Page
of 5