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Showing results (31-40 of 37) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.
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 ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
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Showing results (31-40 of 37) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Novel syndromic neurodevelopmental disorder caused by <i>de novo</i> deletion of <i>CHASERR</i>, a long noncoding RNAVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
The New England Journal of Medicine|October 23, 2024
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA GeneVijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
American Journal of Human Genetics|August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delayRonit Marom, Lindsay C Burrage, Rossella Venditti, et al.
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 ParaplegiaDaniel G Calame, Isabella Herman, Reza Maroofian, et al.
Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.
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