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Brain : a Journal of Neurology
|
October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects
Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
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 RNA
Vijay 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 Gene
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Plos Genetics
|
November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
Ronit Marom, Bo Zhang, Megan E Washington, et al.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2021
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
David R Murdock, Eric Venner, Donna M Muzny, et al.
The New England Journal of Medicine
|
May 31, 2023
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome
Hratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
American Journal of Human Genetics
|
November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
American Journal of Human Genetics
|
August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Ronit Marom, Lindsay C Burrage, Rossella Venditti, et al.
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of 13
Search research articles
Search
Showing results (111-120 of 123) with videos related to
Sort By:
Page
of 13
Brain : a Journal of Neurology
|
October 6, 2022
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects
Lama AlAbdi, Muriel Desbois, Domniţa-Valeria Rusnac, et al.
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 RNA
Vijay 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 Gene
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 21, 2019
Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel
Theodore Chiang, Xiuping Liu, Tsung-Jung Wu, et al.
Plos Genetics
|
November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling
Ronit Marom, Bo Zhang, Megan E Washington, et al.
Brain : a Journal of Neurology
|
July 24, 2019
Cohesin complex-associated holoprosencephaly
Paul Kruszka, Seth I Berger, Valentina Casa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 7, 2021
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications
David R Murdock, Eric Venner, Donna M Muzny, et al.
The New England Journal of Medicine
|
May 31, 2023
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome
Hratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
American Journal of Human Genetics
|
November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.
American Journal of Human Genetics
|
August 27, 2021
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
Ronit Marom, Lindsay C Burrage, Rossella Venditti, et al.
Page
of 13