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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases
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Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

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 ; Silva, Rafael Alves ; Santos, Monize Nakamoto Provisor ; Arruda, Vanessa Yurie Nozaki ; Freitas, Vanessa Galdeno ; Pereira, Vinícius Ceola ; Pintao, Maria Carolina ; Fornari, Alexandre Ricardo dos Santos ; Buzolin, Ana Lígia ; Oku, Andre Yuji ; Burger, Matheus ; Ramalho, Rodrigo Fernandes ; Marco Antonio, David Santos ; Ferreira, Elisa Napolitano ; Pereira, Otavio Jose Eulalio ; Cantagalli, Vanessa Dionisio ; Trindade, Ana Carolina Gomes ; Sousa, Rafaela Rogerio Floriano ; Reys Furuzawa, Cintia ; Verzini, Fernanda ; Matalhana, Shirley Dezan ; Romano, Naiade ; Paixão, Daniele ; Olivati, Caroline ; Spolador, Gustavo Marquezani ; Maciel, Gustavo Arantes Rosa ; Rocha, Viviane Zorzanelli ; Miguelez, Javier ; Carvalho, Mario Henrique Burlacchini ; Souza, Alexandre Wagner Silva ; Andrade, Luis Eduardo Coelho ; Chauffaille, Maria de Lourdes ; Perazzio, Aline dos Santos Borgo ; Catelani, Ana Lucia Pereira Monteiro ; Mitne‐Neto, Miguel ; Kim, Chong Ae ; Baratela, Wagner Antonio da Rosa

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-12, Vol.184 (4), p.955-964

Hoboken, USA: John Wiley & Sons, Inc

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2
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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3
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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4
Molecular identification of Coccidioides spp. in soil samples from Brazil
Molecular identification of Coccidioides spp. in soil samples from Brazil
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Molecular identification of Coccidioides spp. in soil samples from Brazil

de Macêdo, Regina C L ; Rosado, Alexandre S ; da Mota, Fabio F ; Cavalcante, Maria A S ; Eulálio, Kelsen D ; Filho, Antônio D ; Martins, Liline M S ; Lazéra, Márcia S ; Wanke, Bodo

BMC microbiology, 2011-05, Vol.11 (1), p.108-108 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Personalized Interventional Surgery of the Lumbar Spine: A Perspective on Minimally Invasive and Neuroendoscopic Decompression for Spinal Stenosis
Personalized Interventional Surgery of the Lumbar Spine: A Perspective on Minimally Invasive and Neuroendoscopic Decompression for Spinal Stenosis
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Personalized Interventional Surgery of the Lumbar Spine: A Perspective on Minimally Invasive and Neuroendoscopic Decompression for Spinal Stenosis

Lewandrowski, Kai-Uwe ; Yeung, Anthony ; Lorio, Morgan P ; Yang, Huilin ; Ramírez León, Jorge Felipe ; Sánchez, José Antonio Soriano ; Fiorelli, Rossano Kepler Alvim ; Lim, Kang Taek ; Moyano, Jaime ; Dowling, Álvaro ; Sea Aramayo, Juan Marcelo ; Park, Jeong-Yoon ; Kim, Hyeun-Sung ; Zeng, Jiancheng ; Meng, Bin ; Gómez, Fernando Alvarado ; Ramirez, Carolina ; De Carvalho, Paulo Sérgio Teixeira ; Rodriguez Garcia, Manuel ; Garcia, Alfonso ; Martínez, Eulalio Elizalde ; Gómez Silva, Iliana Margarita ; Valerio Pascua, José Edgardo ; Duchén Rodríguez, Luis Miguel ; Meves, Robert ; Menezes, Cristiano M ; Carelli, Luis Eduardo ; Cristante, Alexandre Fogaça ; Amaral, Rodrigo ; de Sa Carneiro, Geraldo ; Defino, Helton ; Yamamoto, Vicky ; Kateb, Babak ; On Behalf Of Teams/Organizations/Institutions

Journal of personalized medicine, 2023-04, Vol.13 (5), p.710 [Periódico revisado por pares]

Switzerland: MDPI AG

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6
Project and Implementation of an Educational Large-Scale Water Distillation Unit with a Closed-Circuit Condenser
Project and Implementation of an Educational Large-Scale Water Distillation Unit with a Closed-Circuit Condenser
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Project and Implementation of an Educational Large-Scale Water Distillation Unit with a Closed-Circuit Condenser

Matos, Luís Carlos ; Eulálio, Ana ; Antunes, Tiago ; Loureiro, José Miguel ; Ferreira, Alexandre ; Mendes, Adélio

Sustainability, 2020-04, Vol.12 (8), p.3239 [Periódico revisado por pares]

Basel: MDPI AG

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7
Apophyseal ring fracture associated with two levels extruded disc herniation: case report and review of the literature
Apophyseal ring fracture associated with two levels extruded disc herniation: case report and review of the literature
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Apophyseal ring fracture associated with two levels extruded disc herniation: case report and review of the literature

Alvarenga, José Alexandre Lopes da Silva ; Ueta, Fernando Tadashi Salvioni ; Del Curto, David ; Ueta, Renato Hiroshi Salvioni ; Martins, Delio Eulalio ; Wajchenberg, Marcelo ; Puertas, Eduardo Barros

Einstein (São Paulo, Brazil), 2014-04, Vol.12 (2), p.230-231

Brazil: Instituto Israelita de Ensino e Pesquisa Albert Einstein

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8
Paracoccidioidomycosis in the spine: case report and review of the literature
Paracoccidioidomycosis in the spine: case report and review of the literature
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Paracoccidioidomycosis in the spine: case report and review of the literature

Alvarenga, José Alexandre Lopes da Silva ; Martins, Délio Eulálio ; Kanas, Michel ; Elizeche, Hugo Gustavo Kunzle ; Dell'Aquila, Adriana Macêdo ; Fernandes, Eloy De Avila ; Wajchenberg, Marcelo ; Puertas, Eduardo Barros

São Paulo medical journal, 2016-05, Vol.134 (3), p.263-267 [Periódico revisado por pares]

Brazil: Associação Paulista de Medicina - APM

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9
Impact of surgeons' experience on accuracy of radiographic segmental kyphosis assessment in thoracolumbar fractures: a prospective observational study
Impact of surgeons' experience on accuracy of radiographic segmental kyphosis assessment in thoracolumbar fractures: a prospective observational study
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Impact of surgeons' experience on accuracy of radiographic segmental kyphosis assessment in thoracolumbar fractures: a prospective observational study

Alvarenga, José Alexandre Lopes da Silva ; Martins, Delio Eulalio ; Ueta, Renato Hiroshi Salvioni ; Del Curto, David ; Wajchenberg, Marcelo ; Puertas, Eduardo Barros

Patient safety in surgery, 2014-03, Vol.8 (1), p.15-15 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Assessment of a Learning Strategy among Spine Surgeons
Assessment of a Learning Strategy among Spine Surgeons
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Assessment of a Learning Strategy among Spine Surgeons

Gotfryd, Alberto Ofenhejm ; Corredor, Jose Alfredo ; Teixeira, William Jacobsen ; Martins, Delio Eulálio ; Milano, Jeronimo ; Iutaka, Alexandre Sadao

Global spine journal, 2017-02, Vol.7 (1), p.33-38 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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