Found: 6
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Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the ARID1B Gene in a Girl with Coffin-Siris Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 5, p. 425, doi. 10.1159/000522532
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- Publication type:
- Article
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 194, doi. 10.1159/000514122
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- Publication type:
- Article
Eyes wide open—an atypical presentation of Miller Fisher syndrome (MFS): case report.
- Published in:
- Egyptian Journal of Neurology, Psychiatry & Neurosurgery, 2022, v. 58, n. 1, p. 1, doi. 10.1186/s41983-022-00451-3
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- Publication type:
- Article
Combined Central and Peripheral Demyelination (CCPD) Associated with MOG Antibodies: Report of Four New Cases and Narrative Review of the Literature.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3604, doi. 10.3390/jcm13123604
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- Publication type:
- Article
An Infant With Purpuric Rash and Edema.
- Published in:
- 2015
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- Publication type:
- Case Study
Predictors of associated and multiple autoimmunity in children and adolescents with type 1 diabetes mellitus.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 3, p. 192, doi. 10.6065/apem.2142168.084
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- Publication type:
- Article