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Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Published in:
Molecular Syndromology, 2017, v. 8, n. 5, p. 227, doi. 10.1159/000477226
By:
- Monteiro, Rejane A. C.;
- de Freitas, Mariana L.;
- Vianna, Gabrielle S.;
- de Oliveira, Valdirene T.;
- Pietra, Rafaella X.;
- Ferreira, Luana C. A.;
- Rocha, Patrícia P. O.;
- da S. Gonçalves, Michele;
- da C. César, Giovana;
- de S. Lima, Joziele;
- Medeiros, Paula F. V.;
- Mazzeu, Juliana F.;
- Jehee, Fernanda S.
Publication type:
Article
Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2170, doi. 10.1002/ajmg.a.61305
By:
- Richieri‐Costa, Antonio;
- Zechi‐Ceide, Roseli M.;
- Candido‐Souza, Rosana M.;
- Monteiro, Rejane A. C.;
- Tonello, Cristiano;
- Freitas, Mariana L.;
- Kokitsu‐Nakata, Nancy M.;
- Vendramini‐Pittoli, Siulan;
- Mazzeu, Juliana F.;
- Overes, Madelief;
- Ali‐Amin, Roza;
- Slegtenhorst, Marjon;
- Hoefsloot, Lies H.;
- Jehee, Fernanda S.
Publication type:
Article
Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.
Published in:
Molecular Syndromology, 2016, v. 7, n. 6, p. 329, doi. 10.1159/000450631
By:
- Vianna, Gabrielle S.;
- Freitas, Mariana L.;
- de Oliveira, Valdirene T.;
- Pietra, Rafaella X.;
- Gonçalves, Michele da S.;
- Rocha, Patrícia P. O.;
- Monteiro, Rejane A. C.;
- Ferreira, Luana C. A.;
- Xavier, Rosana R.;
- Carvalho, Andréia M.;
- de M. Lima, Patrícia R.;
- Monteiro, Maria Augusta N. P.;
- Mateo, Elvis C.;
- Giannetti, Juliana G.;
- César, Giovana da C.;
- Lima, Joziele de S.;
- Medeiros, Paula F. V.;
- Jehee, Fernanda S.
Publication type:
Article

Found: 3

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.