Effectiveness of comprehensive cytogenetic investigations in the diagnosis and genetic counseling of 8,131 patients (2013)
- Authors:
- USP affiliated authors: RAMOS, ESTER SILVEIRA - FMRP ; MARTELLI, LUCIA REGINA - FMRP
- Unidade: FMRP
- Assunto: ACONSELHAMENTO GENÉTICO
- Language: Inglês
- Imprenta:
- Source:
- Título: Abstracts
- Conference titles: Annual Meeting of the American Society of Human Genetics (ASHG)
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ABNT
MARTELLI, Lúcia Regina et al. Effectiveness of comprehensive cytogenetic investigations in the diagnosis and genetic counseling of 8,131 patients. 2013, Anais.. Boston: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 2013. . Acesso em: 14 fev. 2026. -
APA
Martelli, L. R., Huber, J., Santos, S. A., Laureano, L. A. F., Laus, A. C., Squire, J. A., & Ramos, E. S. (2013). Effectiveness of comprehensive cytogenetic investigations in the diagnosis and genetic counseling of 8,131 patients. In Abstracts. Boston: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. -
NLM
Martelli LR, Huber J, Santos SA, Laureano LAF, Laus AC, Squire JA, Ramos ES. Effectiveness of comprehensive cytogenetic investigations in the diagnosis and genetic counseling of 8,131 patients. Abstracts. 2013 ;[citado 2026 fev. 14 ] -
Vancouver
Martelli LR, Huber J, Santos SA, Laureano LAF, Laus AC, Squire JA, Ramos ES. Effectiveness of comprehensive cytogenetic investigations in the diagnosis and genetic counseling of 8,131 patients. Abstracts. 2013 ;[citado 2026 fev. 14 ] - XX/XY chimerism in male infertility
- Familial translocation t(3;10)(p26; p11.2) involving four generations and leading to a partial trisomy 10p and monosomy 3q
- A distinct phenotype of ring chromosome 4
- Phenotype karyotype correlation in a patient with interstitial deletion 11q
- Variante da Síndrome Ullrich-Turner e Neurofibromatose Tipo I
- Phenotypic abnormalities in a familial translocation (11,18) (q231, q12.2)
- Síndrome velo-cardio-facial por translocação (2;22)
- Case report: patient with ring chromosome 4
- Partial trisomy 16 and genitourinary anomalies
- Submicroscopic deletions analysis in chromosome 22q11.2 in 11 families with velocardiofacial syndrome patients
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