Found: 6
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Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy.
- Published in:
- SCIENCE CHINA Life Sciences, 2023, v. 66, n. 9, p. 2152, doi. 10.1007/s11427-022-2313-1
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- Article
Impaired fertility in 4930590J08Rik mutant male mice is associated with defective sperm energy metabolism.
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- FASEB Journal, 2022, v. 36, n. 12, p. 1, doi. 10.1096/fj.202200805RR
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- Article
A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.
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- Movement Disorders, 2022, v. 37, n. 3, p. 598, doi. 10.1002/mds.28885
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- Article
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 5, p. 1, doi. 10.1002/mgg3.1670
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- Article
A PRRT2 variant in a Chinese family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures results in loss of interaction with STX1B.
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- Epilepsia (Series 4), 2018, v. 59, n. 8, p. 1621, doi. 10.1111/epi.14511
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- Article
Space Plasma Distribution Effect of Short-Circuit Arc on Generation of Secondary Arc.
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- Energies (19961073), 2018, v. 11, n. 4, p. 828, doi. 10.3390/en11040828
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- Article