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Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis.
- Published in:
- Movement Disorders, 2013, v. 28, n. 14, p. 2019, doi. 10.1002/mds.25634
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- Publication type:
- Article
Seizures in juvenile Huntington's disease: Frequency and characterization in a multicenter cohort.
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- Movement Disorders, 2012, v. 27, n. 14, p. 1797, doi. 10.1002/mds.25237
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- Publication type:
- Article
Broken connections.
- Published in:
- Science Translational Medicine, 2019, v. 11, n. 481, p. N.PAG, doi. 10.1126/scitranslmed.aaw5333
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- Article
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
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- Neurosurgical Focus, 2016, v. 41, n. 5, p. 1, doi. 10.3171/2016.8.FOCUS16241
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- Publication type:
- Article
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2018, v. 178, n. 4, p. 432, doi. 10.1002/ajmg.c.31666
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- Article
Prenatal presentation of pyruvate dehydrogenase complex deficiency.
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- 2016
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- Publication type:
- journal article
Mortality in pediatric hydrocephalus.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 1, p. 112, doi. 10.1111/dmcn.14975
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- Publication type:
- Article
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1783, doi. 10.1002/ajmg.a.61281
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- Publication type:
- Article
Mortality in Joubert syndrome.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1237, doi. 10.1002/ajmg.a.38158
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- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
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- Publication type:
- Article
Two Hundred Thirty-Six Children With Developmental Hydrocephalus.
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- Journal of Child Neurology, 2016, v. 31, n. 3, p. 309, doi. 10.1177/0883073815592222
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- Publication type:
- Article