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X‐Linked Levodopa‐Responsive Parkinsonism‐Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 556, doi. 10.1002/mdc3.13992
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- Article
Mystery solved after 23 years: M syndrome is PIGT‐associated multiple congenital anomalies‐hypotonia‐seizures syndrome 3.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 12, p. 3567, doi. 10.1002/ajmg.a.62977
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- Article
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 760, doi. 10.1002/ajmg.a.62572
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- Article
Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3916, doi. 10.1002/ajmg.a.62454
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- Article
Cerebellofaciodental syndrome in an adult patient: Expanding the phenotypic and natural history characteristics.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1561, doi. 10.1002/ajmg.a.62140
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- Article