Found: 14
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Short Stature and Distinct Growth Characteristics in Angelman Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 334, doi. 10.1159/000534612
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- Publication type:
- Article
Felbamate for pediatric epilepsy--should we keep on using it as the last resort?
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.979725
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- Publication type:
- Article
Development of an adapted Clinical Global Impression scale for use in Angelman syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s11689-020-09349-8
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- Publication type:
- Article
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
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- Frontiers in Genetics, 2023, v. 13, p. 1, doi. 10.3389/fgene.2022.1018062
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- Publication type:
- Article
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98646-w
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- Publication type:
- Article
Statistical Properties of Pauses of the High-Frequency Discharge Neurons in the External Segment of the Globus Pallidus. .
- Published in:
- Journal of Neuroscience, 2007, v. 27, n. 10, p. 2525, doi. 10.1523/JNEUROSCI.4156-06.2007
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- Publication type:
- Article
Dopamine Replacement Therapy Does Not Restore the Full Spectrum of Normal Pallidal Activity in the 1-Methyl-4-Phenyl-1,2,3,6-Tetra-Hydropyridine Primate Model of Parkinsonism.
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- Journal of Neuroscience, 2006, v. 26, n. 31, p. 8101, doi. 10.1523/JNEUROSCI.5140-05.2006
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- Publication type:
- Article
Functional Correlations between Neighboring Neurons in the Primate Globus Pallidus Are Weak or Nonexistent.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 10, p. 4012, doi. 10.1523/JNEUROSCI.23-10-04012.2003
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- Publication type:
- Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10910-w
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- Article
Functional parameter measurements in children with ataxia telangiectasia.
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- 2020
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- Publication type:
- journal article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
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- Publication type:
- Article
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 476, doi. 10.1002/humu.23945
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- Publication type:
- Article
Perampanel as precision therapy in rare genetic epilepsies.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 866, doi. 10.1111/epi.17530
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- Publication type:
- Article
CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 13, p. 1749, doi. 10.1177/0883073815579708
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- Publication type:
- Article