Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes (2014)
- Authors:
- USP affiliated authors: FABRIS, CLÁUDIA IRENE EMILIO DE CASTRO - IB ; KIM, CHONG AE - FM ; BERTOLA, DÉBORA ROMEO - IB ; KOIFFMANN, CELIA PRISZKULNIK - IB
- Unidades: IB; FM
- DOI: 10.1186/s13039-014-0075-6
- Subjects: DELEÇÃO DE GENES; DEFICIÊNCIA MENTAL; OBESIDADE; CITOGENÉTICA MOLECULAR; GENÉTICA MÉDICA
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Molecular Cytogenetics
- ISSN: 1755-8166
- Volume/Número/Paginação/Ano: v. 7, n. 1, art. 75, p. 1-13, Oct. 2014
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by
-
ABNT
D'ANGELO, Carla Sustek et al. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Molecular Cytogenetics, v. 7, n. 1, p. 1-13, 2014Tradução . . Disponível em: https://doi.org/10.1186/s13039-014-0075-6. Acesso em: 23 abr. 2024. -
APA
D'Angelo, C. S., Varela, M. C., Castro, C. I. E. de, Kim, C. A., Bertola, D. R., Lourenço, C. M., et al. (2014). Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. Molecular Cytogenetics, 7( 1), 1-13. doi:10.1186/s13039-014-0075-6 -
NLM
D'Angelo CS, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [Internet]. Molecular Cytogenetics. 2014 ; 7( 1): 1-13.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1186/s13039-014-0075-6 -
Vancouver
D'Angelo CS, Varela MC, Castro CIE de, Kim CA, Bertola DR, Lourenço CM, Perez ABA, Koiffmann CP. Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes [Internet]. Molecular Cytogenetics. 2014 ; 7( 1): 1-13.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1186/s13039-014-0075-6 - Estudo genetico-clinico da sindrome de wolf-hirschhorn: apresentacao de um caso
- Trissomia parcial da região proximal do braço longo do cromossomo 15: implicação do imprinting genômico
- Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
- Displasias esqueléticas
- Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities
- New insight in mucopolysaccharidosis type VI: Neurological perspective
- Mucopolysaccharidosis Type IVA: Evidence of Primary and Secondary Central Nervous System Involvement
- New Insights in mucopolysaccharidosis type VI: Neurological perspective
- Síndromes genéticas associadas à obesidade
- Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection
Informações sobre o DOI: 10.1186/s13039-014-0075-6 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
