ReP USP - Resultado da busca

Filtros : "Buermans, Henk" Limpar

Filtros

USP affiliated authors
- tavares, vanessa luiza romanelli (2)
- almeida, maria leine guion de (1)
- bueno, maria rita dos santos e passos (1)
- ceide, roseli maria zechi (1)
- ezquina, suzana andreoli marques (1)

Language
- inglês (~2)
Source title
- european journal of human genetics (~1)
- journal of medical genetics (~1)
Publisher
Conference titles
Countries/Territories
- inglaterra (~1)
- reino unido (~1)
Grupo de pesquisa
Funding Agencies
- financiamento cepid-fapesp (~1)
- financiamento cnpq (~1)
Indexado em
- indexado na: index medicus (~1)
- indexado na: medline (~1)
- indexado na: pmc (~1)
- indexado na: pubmed (~1)
Collaboration
Normalized affiliation
Non normalized affiliation
- leiden genome technology center, leiden university medical center, leiden (2)
- centro de atendimento integral ao fissurado lábio palatal, curitiba (1)
- clinical genetics group, mrc weatherall institute of molecular medicine, john radcliffe hospital, university of oxford, oxford (1)
- departement de genetique, hopital necker-enfants malades ap-hp, paris (1)
- department of otolaryngology - head & neck surgery, the hospital for sick children, toronto, ontario (1)

Countries of institutions of collaboration
- brasil (2)
- holanda (2)
- austrália (1)
- canadá (1)
- frança (1)

Artigo de periodico
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements (2021)
Tavares, Vanessa Luiza Romanelli ; Guimarães-Ramos, Sofia Ligia; Zhou, Yan; Masotti, Cibele; Ezquina, Suzana; Moreira, Danielle de Paula; Buermans, Henk; Freitas, Renato S; Dunnen, Johan T Den; Twigg, Stephen R F; Passos-Bueno, Maria Rita
Source: Journal of Medical Genetics. Unidades: IB, BIOINFORMÁTICA
Subjects: GENÉTICA, DOENÇAS GENÉTICAS, FENÓTIPOS, MALFORMAÇÕES, VARIAÇÃO GENÉTICA, ANORMALIDADES CRANIOFACIAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TAVARES, Vanessa Luiza Romanelli et al. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2021-107825. Acesso em: 23 maio 2024.
APA
Tavares, V. L. R., Guimarães-Ramos, S. L., Zhou, Y., Masotti, C., Ezquina, S., Moreira, D. de P., et al. (2021). New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements. Journal of Medical Genetics. doi:10.1136/jmedgenet-2021-107825
NLM
Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 maio 23 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
Vancouver
Tavares VLR, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira D de P, Buermans H, Freitas RS, Dunnen JTD, Twigg SRF, Passos-Bueno MR. New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 maio 23 ] Available from: https://doi.org/10.1136/jmedgenet-2021-107825
Artigo de periodico
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect (2015)
Tavares, Vanessa Luiza Romanelli ; Gordon, Christopher T; Zechi-Ceide, Roseli Maria ; Nakata, Nancy Mizue Kokitsu ; Voisin, Norine; Tan, Tiong Y; Heggie, Andrew A; Pittoli, Siulan Vendramini Paulovich ; Propst, Evan J; Papsin, Blake C; Torres, Tatiana Teixeira ; Buermans, Henk; Capelo, Luciane Portas; Den Dunnen, Johan T; Guion-Almeida, Maria Leine; Lyonnet, Stanislas; Amiel, Jeanne; Passos-Bueno, Maria Rita
Source: European Journal of Human Genetics. Unidades: HRAC, IB
Subjects: ANORMALIDADES CRANIOFACIAIS, DOENÇAS GENÉTICAS, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
TAVARES, Vanessa Luiza Romanelli et al. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, v. 23, n. 4, p. 481-485, 2015Tradução . . Disponível em: https://doi.org/10.1038/ejhg.2014.132. Acesso em: 23 maio 2024.
APA
Tavares, V. L. R., Gordon, C. T., Zechi-Ceide, R. M., Nakata, N. M. K., Voisin, N., Tan, T. Y., et al. (2015). Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. European Journal of Human Genetics, 23( 4), 481-485. doi:10.1038/ejhg.2014.132
NLM
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 maio 23 ] Available from: https://doi.org/10.1038/ejhg.2014.132
Vancouver
Tavares VLR, Gordon CT, Zechi-Ceide RM, Nakata NMK, Voisin N, Tan TY, Heggie AA, Pittoli SVP, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, Den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR. Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect [Internet]. European Journal of Human Genetics. 2015 ; 23( 4): 481-485.[citado 2024 maio 23 ] Available from: https://doi.org/10.1038/ejhg.2014.132

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