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Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients
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Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients

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 ; Souza, Rafaela Rogerio Floriano ; Cintra, Vivian Pedigone ; Carnavalli, Juliana Emilia Prior ; Silva, Rafael Alves ; Paixão, Daniele ; Baratela, Wagner Antonio da Rosa ; Olivati, Caroline ; Spolador, Gustavo Marquezani ; Santos, Monize Nakamoto Provisor ; Pintao, Maria Carolina ; Fornari, Alexandre Ricardo dos Santos ; Burger, Matheus ; Ramalho, Rodrigo Fernandes ; Pereira, Otavio Jose Eulalio ; Ferreira, Elisa Napolitano ; Mitne‐Neto, Miguel ; Kim, Chong Ae

American journal of medical genetics. Part C, Seminars in medical genetics, 2021-09, Vol.187 (3), p.364-372

Hoboken, USA: John Wiley & Sons, Inc

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2
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
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Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

Quaio, Caio Robledo D’Angioli Costa ; Obando, María José Rivadeneira ; Perazzio, Sandro Felix ; Dutra, Aurelio Pimenta ; Chung, Christine Hsiaoyun ; Moreira, Caroline Monaco ; Novo Filho, Gil Monteiro ; Sacramento-Bobotis, Patricia Rossi ; Penna, Michele Groenner ; Souza, Rafaela Rogerio Floriano de ; Cintra, Vivian Pedigone ; Carnavalli, Juliana Emilia Prior ; Silva, Rafael Alves da ; Santos, Monize Nakamoto Provisor ; Paixão, Daniele ; Baratela, Wagner Antonio da Rosa ; Olivati, Caroline ; Spolador, Gustavo Marquezani ; Pintao, Maria Carolina ; Fornari, Alexandre Ricardo dos Santos ; Burger, Matheus ; Ramalho, Rodrigo Fernandes ; Pereira, Otavio Jose Eulalio ; Ferreira, Elisa Napolitano e ; Mitne-Neto, Miguel ; Kim, Chong Ae

Genetics and molecular biology, 2021-01, Vol.44 (4), p.1-20210061 [Periódico revisado por pares]

Ribeirao Preto: Sociedade Brasileira de Genetica

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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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