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Annals of Neurology
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April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G Calame, Isabella Herman, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
American Journal of Human Genetics
|
July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Daniel G Calame, Tianyu Guo, Chen Wang, et al.
American Journal of Human Genetics
|
July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
Wojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Page
of 32
Search research articles
Search
Showing results (311-320 of 314) with videos related to
Sort By:
Page
of 32
You have reached the last page of results.
This site can display upto 314 results.
Annals of Neurology
|
April 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
Daniel G Calame, Isabella Herman, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
American Journal of Human Genetics
|
July 19, 2023
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
Daniel G Calame, Tianyu Guo, Chen Wang, et al.
American Journal of Human Genetics
|
July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
Wojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.
Page
of 32