Found: 11
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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1357, doi. 10.1093/brain/awac330
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- Publication type:
- Article
Genomic testing in patients with renal disease.
- Published in:
- British Journal of Hospital Medicine (17508460), 2023, v. 84, n. 7, p. 1, doi. 10.12968/hmed.2023.0085
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- Publication type:
- Article
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 502, doi. 10.1002/ajmg.c.31738
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- Publication type:
- Article
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 947, doi. 10.1038/ng.2670
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- Publication type:
- Article
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0294-2
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- Publication type:
- Article
Pontomedullary disconnection: fetal and neonatal considerations.
- Published in:
- 2005
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- Publication type:
- journal article
Prioritizing core components of successful transitions from child to adult mental health care: a national Delphi survey with youth, caregivers, and health professionals.
- Published in:
- European Child & Adolescent Psychiatry, 2022, v. 31, n. 11, p. 1739, doi. 10.1007/s00787-021-01806-6
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- Publication type:
- Article
Engaging young people within a collaborative knowledge mobilization network: Development and evaluation.
- Published in:
- Health Expectations, 2022, v. 25, n. 2, p. 617, doi. 10.1111/hex.13409
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- Publication type:
- Article
Engaging youth in research planning, design and execution: Practical recommendations for researchers.
- Published in:
- Health Expectations, 2018, v. 21, n. 6, p. 944, doi. 10.1111/hex.12795
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- Publication type:
- Article
Is NIPA1-associated hereditary spastic paraplegia always 'pure'? Further evidence of motor neurone disease and epilepsy as rare manifestations.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 305, doi. 10.1007/s10048-020-00619-0
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- Publication type:
- Article
"Objectively terrifying": a qualitative study of youth's experiences of transitions out of child and adolescent mental health services at age 18.
- Published in:
- BMC Psychiatry, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12888-020-02516-0
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- Publication type:
- Article