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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2022
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting
Alina I Esterhuizen, Nicki Tiffin, Gillian Riordan, et al.
Biorxiv : the Preprint Server for Biology
|
February 6, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Carina G Biar, Ziyu R Wang, Nathan D Camp, et al.
Brain : a Journal of Neurology
|
June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
Annals of Neurology
|
October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
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of 3
Search research articles
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Showing results (21-30 of 24) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 24 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2022
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting
Alina I Esterhuizen, Nicki Tiffin, Gillian Riordan, et al.
Biorxiv : the Preprint Server for Biology
|
February 6, 2026
An integrated, scaled approach to resolve TSC2 variants of uncertain significance
Carina G Biar, Ziyu R Wang, Nathan D Camp, et al.
Brain : a Journal of Neurology
|
June 30, 2022
mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion
Jeffrey D Calhoun, Miriam C Aziz, Hannah C Happ, et al.
Annals of Neurology
|
October 11, 2019
Spectrum of K<sub>V</sub> 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders
Seok Kyu Kang, Carlos G Vanoye, Sunita N Misra, et al.
Page
of 3