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Novel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant – A Case Report and a Brief Review of the Literature.
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- Molecular Syndromology, 2024, v. 15, n. 1, p. 63, doi. 10.1159/000530410
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- Article
Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review.
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- Molecular Syndromology, 2023, v. 14, n. 6, p. 493, doi. 10.1159/000530586
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- Article
A Novel Family with Demyelinating Charcot–Marie–Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature.
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- Children, 2023, v. 10, n. 5, p. 901, doi. 10.3390/children10050901
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- Article
Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.718808
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- Article