Found: 5
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Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.
- Published in:
- Child's Nervous System, 2013, v. 29, n. 4, p. 543, doi. 10.1007/s00381-012-1982-7
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- Article
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
- Published in:
- Genes, 2021, v. 12, n. 11, p. 1669, doi. 10.3390/genes12111669
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- Article
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
- Published in:
- Human Genetics, 2024, v. 143, n. 3, p. 437, doi. 10.1007/s00439-024-02656-3
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- Article
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1783, doi. 10.1002/ajmg.a.63202
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- Article
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 500, doi. 10.1002/ajmg.a.62000
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- Article