Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP (2019)
- Authors:
- Autor USP: KOK, FERNANDO - FM
- Unidade: FM
- DOI: 10.1016/j.biopsych.2018.02.1173
- Subjects: AUTISMO; TRANSTORNOS MENTAIS DIAGNOSTICADOS NA INFÂNCIA; MUTAÇÃO GENÉTICA
- Agências de fomento:
- National Institute for Health Research, through the Comprehensive Clinical Research Network
- Wellcome Trust Sanger Institute [WT098051]
- Department of Health
- Wellcome Trust
- Health Innovation Challenge Fund [HICF-1009-003]
- '5 per mille' funding
- Italian Ministry of Health
- National Institutes of Health [R01MH101221]
- Simons Foundation Autism Research Initiative [SFARI 303241]
- Chief Scientist Office-Ministry of Health
- European Research Area Networks Network of European Funding for Neuroscience Research through the Research Foundation-Flanders
- Language: Inglês
- Imprenta:
- Source:
- Título: Biological psychiatry
- ISSN: 0006-3223
- Volume/Número/Paginação/Ano: v. 85, n. 4, p. 287-297, 2019
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
DIJCK, Anke Van et al. Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biological psychiatry, v. 85, n. 4, p. 287-297, 2019Tradução . . Disponível em: https://doi.org/10.1016/j.biopsych.2018.02.1173. Acesso em: 25 fev. 2026. -
APA
Dijck, A. V., Silfhout, A. T. V. -van, Cappuyns, E., Werf, I. M. van der, Mancini, G. M., Tzschach, A., et al. (2019). Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biological psychiatry, 85( 4), 287-297. doi:10.1016/j.biopsych.2018.02.1173 -
NLM
Dijck AV, Silfhout ATV-van, Cappuyns E, Werf IM van der, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Kok F. Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP [Internet]. Biological psychiatry. 2019 ; 85( 4): 287-297.[citado 2026 fev. 25 ] Available from: https://doi.org/10.1016/j.biopsych.2018.02.1173 -
Vancouver
Dijck AV, Silfhout ATV-van, Cappuyns E, Werf IM van der, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Kok F. Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP [Internet]. Biological psychiatry. 2019 ; 85( 4): 287-297.[citado 2026 fev. 25 ] Available from: https://doi.org/10.1016/j.biopsych.2018.02.1173 - Santos syndrome is caused by mutation in the WNT7A gene
- A novel complex neurological phenotype due to a homozygous mutation in FDX2
- Typical clinical and neuroimaging features in Sjögren-Larsson syndrome [Editorial]
- Leukodystrophy with premature ovarian failure: Think on vanishing white matter disease (VWMD)
- Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease
- Extreme Clinical Variability Among Carriers of Pathogenic Variant in SSBP1 [Carta]
- Haploidentical bone marrow transplantation with post transplant cyclophosphamide for patients with X-linked adrenoleukodystrophy: a suitable choice in an urgent situation
- A case of mitochondrial DNA depletion syndrome type 11-expanding the genotype and phenotype
- When multiple sclerosis and X-linked adrenoleukodystrophy are tangled A challenging case
- Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency [editorial]: A Novel Mutation with Prominent Ataxia
Informações sobre o DOI: 10.1016/j.biopsych.2018.02.1173 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
