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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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- 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
Postherpes simplex encephalitis: a case series of viral-triggered autoimmunity, synaptic autoantibodies and response to therapy.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2018, v. 11, p. 1, doi. 10.1177/1756286418768778
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- Article