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Complexity of the 5' Untranslated Region of [electronic resource] by
- Hsia, Gabriella S P
- Musso, Camila M
- Alvizi, Lucas
- Brito, Luciano A
- Kobayashi, Gerson S
- Pavanello, Rita C M
- Zatz, Mayana
- Gardham, Alice
- Wakeling, Emma
- Zechi-Ceide, Roseli M
- Bertola, Debora
- Passos-Bueno, Maria Rita
Publication details: Frontiers in genetics 2018
In:
Frontiers in genetics vol. 9
Availability: No items available.
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EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome. [electronic resource] by
- Miller, Emily E
- Kobayashi, Gerson S
- Musso, Camila M
- Allen, Miranda
- Ishiy, Felipe A A
- de Caires, Luiz Carlos
- Goulart, Ernesto
- Griesi-Oliveira, Karina
- Zechi-Ceide, Roseli M
- Richieri-Costa, Antonio
- Bertola, Debora R
- Passos-Bueno, Maria Rita
- Silver, Debra L
Producer: 20171012
In:
Human molecular genetics vol. 26
Availability: No items available.
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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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Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome. [electronic resource] by
- Romanelli Tavares, Vanessa L
- Zechi-Ceide, Roseli M
- Bertola, Debora R
- Gordon, Christopher T
- Ferreira, Simone G
- Hsia, Gabriella S P
- Yamamoto, Guilherme L
- Ezquina, Suzana A M
- Kokitsu-Nakata, Nancy M
- Vendramini-Pittoli, Siulan
- Freitas, Renato S
- Souza, Josiane
- Raposo-Amaral, Cesar A
- Zatz, Mayana
- Amiel, Jeanne
- Guion-Almeida, Maria L
- Passos-Bueno, Maria Rita
Producer: 20171030
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. [electronic resource] by
- Favaro, Francine P
- Alvizi, Lucas
- Zechi-Ceide, Roseli M
- Bertola, Debora
- Felix, Temis M
- de Souza, Josiane
- Raskin, Salmo
- Twigg, Stephen R F
- Weiner, Andrea M J
- Armas, Pablo
- Margarit, Ezequiel
- Calcaterra, Nora B
- Andersen, Gregers R
- McGowan, Simon J
- Wilkie, Andrew O M
- Richieri-Costa, Antonio
- de Almeida, Maria L G
- Passos-Bueno, Maria Rita
Producer: 20140224
In:
American journal of human genetics vol. 94
Availability: No items available.
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8.
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Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect. [electronic resource] by
- Romanelli Tavares, Vanessa L
- Gordon, Christopher T
- Zechi-Ceide, Roseli M
- Kokitsu-Nakata, Nancy Mizue
- Voisin, Norine
- Tan, Tiong Y
- Heggie, Andrew A
- Vendramini-Pittoli, Siulan
- Propst, Evan J
- Papsin, Blake C
- Torres, Tatiana T
- Buermans, Henk
- Capelo, Luciane Portas
- den Dunnen, Johan T
- Guion-Almeida, Maria L
- Lyonnet, Stanislas
- Amiel, Jeanne
- Passos-Bueno, Maria Rita
Producer: 20151215
In:
European journal of human genetics : EJHG vol. 23
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Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. [electronic resource] by
- Twigg, Stephen R F
- Babbs, Christian
- van den Elzen, Marijke E P
- Goriely, Anne
- Taylor, Stephen
- McGowan, Simon J
- Giannoulatou, Eleni
- Lonie, Lorne
- Ragoussis, Jiannis
- Sadighi Akha, Elham
- Knight, Samantha J L
- Zechi-Ceide, Roseli M
- Hoogeboom, Jeannette A M
- Pober, Barbara R
- Toriello, Helga V
- Wall, Steven A
- Rita Passos-Bueno, M
- Brunner, Han G
- Mathijssen, Irene M J
- Wilkie, Andrew O M
Producer: 20130903
In:
Human molecular genetics vol. 22
Availability: No items available.
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Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. [electronic resource] by
- Delaney, Angela
- Volochayev, Rita
- Meader, Brooke
- Lee, Janice
- Almpani, Konstantinia
- Noukelak, Germaine Y
- Henkind, Jennifer
- Chalmers, Laura
- Law, Jennifer R
- Williamson, Kathleen A
- Jacobsen, Christina M
- Buitrago, Tatiana Pineda
- Perez, Orlando
- Cho, Chie-Hee
- Kaindl, Angela
- Rauch, Anita
- Steindl, Katharina
- Garcia, Jose Elias
- Russell, Bianca E
- Prasad, Rameshwar
- Mondal, Uttam K
- Reigstad, Hallvard M
- Clements, Scott
- Kim, Susan
- Inoue, Kaoru
- Arora, Gazal
- Salnikov, Kathryn B
- DiOrio, Nicole P
- Prada, Rolando
- Capri, Yline
- Morioka, Kosuke
- Mizota, Michiyo
- Zechi-Ceide, Roseli M
- Kokitsu-Nakata, Nancy M
- Tonello, Cristiano
- Vendramini-Pittoli, Siulan
- da Silva Dalben, Gisele
- Balasubramanian, Ravikumar
- Dwyer, Andrew A
- Seminara, Stephanie B
- Crowley, William F
- Plummer, Lacey
- Hall, Janet E
- Graham, John M
- Lin, Angela E
- Shaw, Natalie D
Producer: 20210203
In:
The Journal of clinical endocrinology and metabolism vol. 105
Availability: No items available.
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