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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
- Published in:
- Annals of Neurology, 2020, v. 88, n. 5, p. 867, doi. 10.1002/ana.25879
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- Publication type:
- Article
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
- Published in:
- 2017
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- Publication type:
- journal article
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0343-x
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- Publication type:
- Article