検索結果 - Shehrazade Dahimène
- 検索結果 1 - 5 結果 / 5
-
1
-
2
-
3
-
4
-
5
Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy 著者: Shehrazade Dahimène, Leonie von Elsner, Tess Holling, Lauren Mattas, Jess Pickard, Davor Lessel, Kjara S. Pilch, Ivan Kadurin, Wendy S. Pratt, Igor B. Zhulin, Hongzheng Dai, Maja Hempel, Maura Ruzhnikov, Kerstin Kutsche, Annette Dolphin
出版事項 2022Artigo
関連主題
Biology
Gene
Medicine
Internal medicine
Biochemistry
Biophysics
Calcium
Calcium channel
Cell biology
Chemistry
Genetics
Neuroscience
Psychiatry
Voltage-dependent calcium channel
Autism
Autism spectrum disorder
Bioinformatics
Bipolar disorder
Cav1.2
Cell
Cognition
Cystic fibrosis
Disease
Encephalopathy
Endocytosis
Epilepsy
Etiology
Genotype
Immunoprecipitation
Long QT syndrome