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Author/Creator Burger, Matheus

1. Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases. Issue 4 (30th November 2020)

Authors:
Quaio, Caio Robledo D'Angioli Costa; Moreira, Caroline Monaco; Novo‐Filho, Gil Monteiro; Sacramento‐Bobotis, Patricia Rossi; Groenner Penna, Michele; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; da Silva, Rafael Alves; Santos, Monize Nakamoto Provisor; de Arruda, Vanessa Yurie Nozaki; Freitas,...
Other Names:
Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 184:Issue 4(2020)
Page Start:
955
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients. Issue 3 (16th July 2021)

Authors:
Quaio, Caio Robledo D'Angioli Costa; Chung, Christine Hsiaoyun; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; Moreira, Caroline Monaco; Filho, Gil Monteiro Novo; Sacramento‐Bobotis, Patricia Rossi; Penna, Michele Groenner; de Souza, Rafaela Rogerio Floriano; Cintra, Vivian Pedigone; Carnavalli,...
Other Names:
Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 187:Issue 3(2021)
Page Start:
364
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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