Similar Items: A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular Syndrome
- Cerebellar structure and function abnormalities in 16p11.2 microduplication mice
- Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study
- Correction to: Development of molecular assays to detect the G143A point mutation responsible for group 11 fungicide insensitivity in
- Hypokalemic Periodic Paralysis Associated With a Rare CACNA1S Variant (p.Leu1243Val): Expanding the Mutational Spectrum
- Rare Presentation of Homozygous SLC20A2 Mutations Causing Intra-Arterial Cerebral Vasculopathy and Stroke in Infancy: Case Report and Review of the Literature
- A Rare Clinical Presentation of Variegate Porphyria