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Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome. [electronic resource] by
- Richieri-Costa, Antonio
- Zechi-Ceide, Roseli M
- Candido-Souza, Rosana M
- Monteiro, Rejane A C
- Tonello, Cristiano
- de Freitas, Mariana L
- Kokitsu-Nakata, Nancy M
- Vendramini-Pittoli, Siulan
- Mazzeu, Juliana F
- Overes, Madelief
- Ali-Amin, Roza
- van Slegtenhorst, Marjon
- Hoefsloot, Lies H
- Jehee, Fernanda S
Producer: 20200804
In:
American journal of medical genetics. Part A vol. 179
Availability: No items available.
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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. [electronic resource] 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 details: Molecular syndromology Aug 2017
In:
Molecular syndromology vol. 8
Availability: No items available.
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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. [electronic resource] by
- Jehee, Fernanda S
- de Oliveira, Valdirene T
- Gurgel-Giannetti, Juliana
- Pietra, Rafaella X
- Rubatino, Fernando V M
- Carobin, Natália V
- Vianna, Gabrielle S
- de Freitas, Mariana L
- Fernandes, Karla S
- Ribeiro, Beatriz S V
- Brüggenwirth, Hennie T
- Ali-Amin, Roza
- White, Janson J
- Akdemir, Zeynep C
- Jhangiani, Shalini N
- Gibbs, Richard A
- Lupski, James R
- Varela, Monica C
- Koiffmann, Célia
- Rosenberg, Carla
- Carvalho, Cláudia M B
Producer: 20171130
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes. [electronic resource] by
- Vianna, Gabrielle S
- Freitas, Mariana L
- Oliveira, Valdirene T de
- 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
- Lima, Patrícia R de M
- 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 details: Molecular syndromology Nov 2016
In:
Molecular syndromology vol. 7
Availability: No items available.
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