Found: 12
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Clinical utility of exome sequencing in a pediatric epilepsy cohort.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 4, p. 986, doi. 10.1111/epi.17534
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- Publication type:
- Article
Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors.
- Published in:
- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 266, doi. 10.1002/jgc4.1646
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- Publication type:
- Article
Risk Variants in the Exomes of Children With Critical Illness.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 10, p. e2239122, doi. 10.1001/jamanetworkopen.2022.39122
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- Publication type:
- Article
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3740, doi. 10.1002/ajmg.a.62445
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- Publication type:
- Article
Genetic testing in individuals with cerebral palsy.
- Published in:
- Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1448, doi. 10.1111/dmcn.14948
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- Publication type:
- Article
A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 7, p. e103, doi. 10.1111/epi.16931
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- Publication type:
- Article
A Novel Kv7.3 Variant in the Voltage-Sensing S<sub>4</sub> Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. N.PAG, doi. 10.3389/fphys.2020.01040
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- Publication type:
- Article
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
- Published in:
- 2018
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- Publication type:
- journal article
Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.
- Published in:
- 2018
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- Publication type:
- Case Study
Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study.
- Published in:
- Human Heredity, 2013, v. 75, n. 2-4, p. 186, doi. 10.1159/000353712
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- Publication type:
- Article
Impact of Information About Obesity Genomics on the Stigmatization of Overweight Individuals: An Experimental Study.
- Published in:
- Obesity (19307381), 2012, v. 20, n. 12, p. 2367, doi. 10.1038/oby.2012.144
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- Publication type:
- Article