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Science Advances
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October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission
Hui Guo, Ying Li, Lu Shen, et al.
Nature Genetics
|
July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A Cousin, Blake A Creighton, Keith A Breau, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Medical Genetics. Part A
|
March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
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Search research articles
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Showing results (81-90 of 85) with videos related to
Sort By:
Page
of 9
You have reached the last page of results.
This site can display upto 85 results.
Science Advances
|
October 4, 2019
Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission
Hui Guo, Ying Li, Lu Shen, et al.
Nature Genetics
|
July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
Margot A Cousin, Blake A Creighton, Keith A Breau, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2021
DLG4-related synaptopathy: a new rare brain disorder
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, et al.
American Journal of Medical Genetics. Part A
|
March 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
Sarah E Sheppard, Ian M Campbell, Margaret H Harr, et al.
Page
of 9