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Human Mutation
|
October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Epilepsia
|
March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy
Marlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Bone Research
|
January 10, 2019
NOTUM inhibition increases endocortical bone formation and bone strength
Robert Brommage, Jeff Liu, Peter Vogel, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
Electrophysiologically Targeted Biopsies Reveal the Transcriptional Landscape of Focal Epilepsy
Ashwin Viswanathan, Molly Murch, Abby Brand, et al.
Epilepsy Research
|
August 21, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Paula Marques, Patrick B Moloney, Caihong Ji, et al.
Obesity (Silver Spring, Md.)
|
August 23, 2008
High-throughput screening of mouse knockout lines identifies true lean and obese phenotypes
Robert Brommage, Urvi Desai, Jean-Pierre Revelli, et al.
Seizure
|
November 17, 2024
Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children
Cristina Barcia Aguilar, Marta Amengual-Gual, J Nicholas Brenton, et al.
Brain : a Journal of Neurology
|
April 9, 2025
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy
JiaJie Teoh, Jane Simko, Chad R Camp, et al.
Brain : a Journal of Neurology
|
April 20, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Dulcie Lai, Meethila Gade, Edward Yang, et al.
Journal of Medicinal Chemistry
|
February 1, 2024
Discovery and Preclinical Pharmacology of NX-2127, an Orally Bioavailable Degrader of Bruton's Tyrosine Kinase with Immunomodulatory Activity for the Treatment of Patients with B Cell Malignancies
Daniel W Robbins, Mark A Noviski, Ying Siow Tan, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 96) with videos related to
Sort By:
Page
of 10
Human Mutation
|
October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria
Ingo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
Epilepsia
|
March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy
Marlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Bone Research
|
January 10, 2019
NOTUM inhibition increases endocortical bone formation and bone strength
Robert Brommage, Jeff Liu, Peter Vogel, et al.
Biorxiv : the Preprint Server for Biology
|
April 10, 2026
Electrophysiologically Targeted Biopsies Reveal the Transcriptional Landscape of Focal Epilepsy
Ashwin Viswanathan, Molly Murch, Abby Brand, et al.
Epilepsy Research
|
August 21, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Paula Marques, Patrick B Moloney, Caihong Ji, et al.
Obesity (Silver Spring, Md.)
|
August 23, 2008
High-throughput screening of mouse knockout lines identifies true lean and obese phenotypes
Robert Brommage, Urvi Desai, Jean-Pierre Revelli, et al.
Seizure
|
November 17, 2024
Lack of association of first and second-line medication dosing and progression to refractory status epilepticus in children
Cristina Barcia Aguilar, Marta Amengual-Gual, J Nicholas Brenton, et al.
Brain : a Journal of Neurology
|
April 9, 2025
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy
JiaJie Teoh, Jane Simko, Chad R Camp, et al.
Brain : a Journal of Neurology
|
April 20, 2022
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
Dulcie Lai, Meethila Gade, Edward Yang, et al.
Journal of Medicinal Chemistry
|
February 1, 2024
Discovery and Preclinical Pharmacology of NX-2127, an Orally Bioavailable Degrader of Bruton's Tyrosine Kinase with Immunomodulatory Activity for the Treatment of Patients with B Cell Malignancies
Daniel W Robbins, Mark A Noviski, Ying Siow Tan, et al.
Page
of 10