Found: 4
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Whole‐exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot‐Marie‐Tooth neuropathy type 2U.
- Published in:
- Journal of the Peripheral Nervous System, 2018, v. 23, n. 2, p. 138, doi. 10.1111/jns.12264
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- Publication type:
- Article
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Visual Outcome and Recurrence Rate in Children With Idiopathic Intracranial Hypertension.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 11, p. 1448, doi. 10.1177/0883073815569306
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- Publication type:
- Article
Acute Transient Deafness Representing a Negative Epileptic Phenomenon.
- Published in:
- 2010
- By:
- Publication type:
- Case Study