Produção Nacional
Revisado por pares
Fernanda Crunfli, Victor Corasolla Carregari, Flávio P. Veras, Lucas Scárdua Silva, Mateus Henrique Nogueira, André Saraiva Leão Marcelo Antunes, Pedro Henrique Vendramini, Aline Gazzola Fragnani Valença, Caroline Brandão‐Teles, Giuliana S. Zuccoli, Guilherme Reis‐de‐Oliveira, Lícia C. Silva-Costa, Verônica M. Saia‐Cereda, Bradley J. Smith, Ana Campos Codo, Gabriela Fabiano de Souza, Stéfanie Primon Muraro, Pierina Lorencini Parise, Daniel A. Toledo-Teixeira, Ícaro Maia Santos de Castro, Bruno Marcel Silva de Melo, Glaucia M. Almeida, Egidi Mayara Silva Firmino, Isadora Marques Paiva, Bruna Manuella Souza Silva, Rafaela Mano Guimarães, Niele Dias Mendes, Raíssa L. Ludwig, Gabriel Palermo Ruiz, Thiago L. Knittel, Gustavo Gastão Davanzo, Jaqueline Aline Gerhardt, Patrícia Brito Rodrigues, Julia Forato, Mariene R. Amorim, Natália S. Brunetti, Matheus Cavalheiro Martini, Maíra Nilson Benatti, Sabrina Setembre Batah, Li Siyuan, Rafael Batista João, Ítalo Karmann Aventurato, Mariana Rabelo de Brito, Maria Julia Mendes, Beatriz Amorim Da Costa, Marina K. M. Alvim, José Roberto da Silva, Lívia Liviane Damião, Iêda Maria Pereira de Sousa, Elessandra Dias da Rocha, Solange Maria Gonçalves, Luiz H. Lopes da Silva, Vanessa Bettini, Brunno Machado de Campos, Guilherme Ludwig, Lucas Tavares, Marjorie Cornejo Pontelli, Rosa Maria Mendes Viana, Ronaldo B. Martins, André Schwambach Vieira, José C. Alves‐Filho, Eurico Arruda, Guilherme Gozzoli Podolsky Gondim, Marcelo Volpon Santos, Luciano Neder, André Damásio, Stevens K. Rehen, Marco Aurélio Ramirez Vinolo, Carolina Demarchi Munhoz, Paulo Louzada‐Júnior, Renê Donizeti Ribeiro de Oliveira, Fernando Q. Cunha, Helder I. Nakaya, Thaís Mauad, Amaro Nunes Duarte‐Neto, Luiz Fernando Ferraz da Silva, Marisa Dolhnikoff, Paulo Hilário Nascimento Saldiva, Alessandro S. Farias, Fernando Cendes, Pedro M. Moraes‐Vieira, Alexandre Todorovic Fabro, Adriano Sebollela, José Luiz Proença‐Módena, Clarissa Lin Yasuda, Marcelo A. Mori, Thiago M. Cunha, Daniel Martins‐de‐Souza,
Although increasing evidence confirms neuropsychiatric manifestations associated mainly with severe COVID-19 infection, long-term neuropsychiatric dysfunction (recently characterized as part of "long COVID-19" syndrome) has been frequently observed after mild infection. We show the spectrum of cerebral impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, ranging from long-term alterations in mildly infected individuals (orbitofrontal cortical atrophy, neurocognitive impairment, ...
Tópico(s): COVID-19 and Mental Health
2022 - National Academy of Sciences | Proceedings of the National Academy of Sciences
Produção Nacional
Pedro dos Santos Portugal Júnior, Guaracy Silva, Matheus Guedes, Stefano Barra Gazzola, Guilherme Augusto Dionísio Vivaldi,
O presente estudo objetiva apresentar a importância institucional do Conselho Empresarial do Sul de Minas – Regional Varginha (CESUL – Varginha) como lócus de articulação e proposição de alternativas para o desenvolvimento regional. A nova democracia que emerge atualmente caminha para um direcionamento mais participativo e não apenas representativo e nessa seara é de fundamental importância o papel dos conselhos municipais e regionais. O artigo foi construído com base em pesquisa bibliográfica e pesquisa- ...
Tópico(s): Rural Development and Agriculture
2020 - UNIVERSIDADE DO CONTESTADO | Profanações
Produção Nacional
Gabriela Pires Marra, Giovanna de Albuquerque Gazzola, Guilherme Moreto de Lima, Júlia Lopes Ferreira, Taís Marçal Gonçalves,
Introdução: o Diabetes Mellitus (DM) é uma doença crônica prevalente em todo o mundo, apresentando desafios significativos para a saúde pública devido a sua crescente incidência. O manejo e a administração adequada de insulina são cruciais para um controle glicêmico efetivo em pacientes com diabetes tipo 1 e 2 avançadas. No entanto, a aplicação adequada da insulina é frequentemente prejudicada por diversos fatores, como limitações técnicas e barreiras sociais. Objetivo: compreender as dificuldades ...
Tópico(s): Healthcare Regulation
2024 - Brazilian Journal of Development | Brazilian Journal of Health Review
Bruno Custódio Silva, Giulia Righetti Tuppini Vargas, Jéssica Karine Hartmann, Laira Francielle Ferreira Zottis, Mateus Arenhardt de Souza, Maria Isabelle Nakano Vieira, Guilherme Rocha Spiller, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa,
Context: Neurofibromatosis type 1 (NF1) is a genetic condition characterized by “café au lait” spots, axillary and inguinal ephelides and cutaneous neurofibromas. Case report: A 16 year-old famele patient with description that her father and other family members had the “café au lait” spots. From the age of 5, she started with slight facial asymmetry, which increased over time. On physical exam at 16 years old, she had facial asymmetry, convergent strabismus with a left lower eyelid cleft than the ...
Tópico(s): Meningioma and schwannoma management
2021 - Medical Association of São Paulo | Sao Paulo Medical Journal
Bruno Custódio Silva, Maria Isabelle Nakano Vieira, Gisele Delazeri, Esther Rodrigues Rocha Alves, Ana Luíza Kolling Konopka, Guilherme Rocha Spiller, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa,
Context: Chromosome 13 trisomy, or Patau syndrome (PS), is a genetic condition characterized by multiple findings and usually poor survival rate. However, its clinical presentation can be variable. Case report: A male patient was referred for evaluation due to a syndromic aspect. He was born by normal delivery, at term, weighing 4700 g. On physical exam, at 2 months, two areas of scaly aplasia on the scalp were shown as well as left coloboma of the iris, bulbous nose with small nostrils, ears with ...
Tópico(s): Fetal and Pediatric Neurological Disorders
2021 - Medical Association of São Paulo | Sao Paulo Medical Journal
Bruno Custódio Silva, Hugo Roberto Sampaio Martins, Thais Vanessa Salvador, Guilherme Parmigiani Bobsin, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa,
Introduction: Chromosome 18 trisomy or Edwards syndrome (ED) is characterized by wide clinical manifestations, usually associated with neurological symptoms and a poor prognosis. Objective, materials and methods: Describe the clinical findings, especially the neurological ones, of a sample of patients with mosaic chromosome 18 trisomy. These were evaluated at a Clinical Genetics Service from 1975 to 2008. Results: During the study, 50 patients with ED were diagnosed, 5 of them (10%) in mosaic. The ...
Tópico(s): Genomic variations and chromosomal abnormalities
2021 - Medical Association of São Paulo | Sao Paulo Medical Journal
... Tom Burns and Gareth Williams, ed. Ana Lucia Gazzola (Durham, N.C.: Duke University Press, 2002). See ... Campinas: Mercado de Letras, 1995), 32. See also Guilherme Simões Gomes Júnior, Palavra peregrina: O Barroco e ...
Tópico(s): Travel Writing and Literature
2014 - College Art Association | The Art Bulletin
Bruno Custódio Silva, Guilherme Parmigiani Bobsin, Raquel dos Santos Ramos, Tatiane Andressa Gasparetto, Vivianne Amanda do Nascimento, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Rosa,
Context: Inversion-duplication-deletion (invdupdel) involving the short arm of chromosome 5 is considered a complex and extremely rare alteration. Case report: A female patient was born prematurely at 32 weeks and was delivered by cesarean section, weighing 2,086 grams, with an Apgar score in the fifth minute of 7. After birth, she needed invasive mechanical ventilation. A nasofibrolaryngoscopy was performed, which revealed the rear projection of the tongue base. The speech-language evaluation showed ...
Tópico(s): Genomics and Rare Diseases
2021 - Medical Association of São Paulo | Sao Paulo Medical Journal
Produção Nacional
Revisado por pares
Bibiana Mello de Oliveira, Filipe Andrade Bernardi, João Baiochi, Mariane Barros Neiva, Milena Artifon, A Vergara, Ana Maria Martins, Anete Sevciovic Grumach, Angelina Xavier Acosta, Antonette Souto El Husny, B. Ribeiro, Camila Ferreira Ramos, Carlos Eduardo Steiner, Chong Ae Kim, Denise Maria Christofolini, Diego Bettiol Yamada, Ellaine Dóris Fernandes Carvalho, Erlane Marques Ribeiro, Fabíola de Arruda Bastos, Faradiba Sarquis Serpa, Flávia Reseda Brandão, Giselle Maria Araujo Felix Adjuto, Isabelle Carvalho, Jonas Alex Morales Saute, Juan Clinton Llerena, Larissa Souza Mario Bueno, Luiz Carlos Santana da Silva, Mara Lúcia Schmitz Ferreira Santos, Marcela Câmara Machado Costa, Marcia Maria Costa Giacon Giusti, Marcial Francis Galera, Márcio Eloi Colombo Filho, Maria Denise Fernandes Carvalho de Andrade, Marisa Ribeiro de Itapema Cardoso, Marilaine Matos de Menezes Ferreira, Michelle Silva Zeny, Milena Coelho Fernandes Caldato, Ney Boa‐Sorte, Nina Rosa de Castro Musolino, Paula Frassinetti Vasconcelos de Medeiros, Paulo Ricardo Gazzola Zen, Raquel Tavares Boy da Silva, Rayana Elias Maia, Rodrigo Ambrósio Fock, Rosemarie Elizabeth Schimidt Almeida, Solange Oliveira Rodrigues Valle, Tatiana Amorim, Thaís Bomfim Teixeira, Vânia Mesquita Gadelha Prazeres, Victor Evangelista de Faria Ferraz, Vinícius Lima, Wagner José Martins Paiva, Ida Vanessa Döederlein Schwartz, Domingos Alves, Têmis Maria Félix, Ângela Melo, Adrya Rafaela da Silva Rocha, Amanda Aragão, Amanda Delfino Braccini, Amanda Maria Schmidt, Ana Mondadori dos Santos, Ana Carolina de Souza e Silva, Ana Lúcia Lei Munhoz Lima, A Scasso, Ana Sofia Oliveira, Arthur Perico, Bárbara da Silva Aniceto, Bárbara Carine Soares Pinheiro, Beatriz Ono Badaró, Beatriz Brasil Braga, Beatriz de Oliveira Chapiesk, Beatriz Pinheiro, Beatriz Pereira, Betânia de Souza Ponce, Bianca Rocha Martins, Blenda Antunes Cacique Curçino de Eça, Bruna de Souza, Brunno Busnardo Paschoalino, Bruno Lassmar Bueno Valadares, C. Oliveira, Camila Ferreira Sales, Carine Pacheco Alexandre, Carla Desengrini Girelli, Carolina Balluz, Carolina de Paiva Farias, Carolina Oliveira Vilemar, C Arrigoni, Costa Passos, Catharine Harumi, Cleber Barbieri, Daniel Prado, Daniela Monteiro, Dhallya Andressa da Silva Cruz, Eduardo de Miranda Batista, Eduardo Lázaro Martins Naves, Elaine Samara Pinheiro Mendes da Silva, E. Teixeira, Fernando Amaral, Frederico Rafael Moreira, Flávia K. Siqueira‐Souza, Flávia Cristina Teixeira Silva Boggian, Francisco André Gomes Bastos Filho, Gabriel Lima Lôla, Gabriel Pereira, Gabrielle Diehl, Giovanna Pessanha Cordeiro, Goretti Duran, Guilherme Fonseca, Helena Flores Mello, Henrique Teixeira Giestas Serpa, Henrique Veiga, Ingrid Gabriel, Isabella Formenti, Isabel Ramos, Isabel Paiva, Janaína Barcellos Ferreira, José Henrique Albuquerque Rangel, Jôbert Pôrto Florêncio, Josevaldo Monteiro Maia Filho, Júlia Ellen Francelino Dantas, Júlia Cordeiro Milke, J.M.M. Rios, Jessé Marques da Silva Júnior Pavão, Kahue Aluaxe Angelo, Karina Montemor Klegen de Oliveira, Katheryne Barbosa de Carvalho, Kauanne Zulszeski, Leticia R. Lima, Livia Polisseni Cotta Nascimento, Luiz Augusto Pereira, Lorenzo Longo Makariewicz, Luan Junio Pereira Bittencourt, Luana de Medeiros, Luana Soares Vasconcelos, Lucca Nogueira Paes Jannuzzi, Luciana Costa Pinto da Silva, Luísa Bertoldi Aguilar, Luiza Valeria Chibicheski, Luiza de Oliveira Simões, Maria Teresa Aires Cabral Dias, Mariana Lopes dos Santos, Maria Teresa Neves, Marina Teixeira Henriques, Matheus Viganô Leal, Milena Atique-Tacla, Milena Soares Souza, María Fidéliz de la Paz, Mariana Dantas Silva, Nivaldo de Jesus Silva Soares, Nicole da Silva Gilbert, Otávio Maurício Silva, Paula Dourado Sousa, Paulo Novis Rocha, Roshan Jacob, Rufino Silva, Ricardo Wathson Feitosa de Carvalho, Ricardo Santos, Raquel Silva, Rebeca Pedrosa Holanda, Rebeca Mourão, Ricardo Cunha de Oliveira, Rodrigo Mesquita Costa Braga, Sabrina Macely, Sara Moráis, Sheila Constância Adolfo Mabote Mucumbi, Simei Nhime, Sofia Rodrigues Sousa, Tarcísio Flávio Umbelino Rêgo, Thayane Holanda Gurjão, Thuanne Cidreira dos Santos Gomes, Tiago Ramos Gazineu, Victoria Ferrari Machado, Victória Feitosa Muniz, V. H. Bazan Da Rocha, Victor Hugo Fernandes Leão, William Brenno dos Santos Oliveira, Willian Correa Miguel, Yasmin de Araújo Ribeiro, Yasmin Alves dos Santos,
The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive ...
Tópico(s): Immunodeficiency and Autoimmune Disorders
2024 - BioMed Central | Orphanet Journal of Rare Diseases
K. G. M. M. Alberti, John G. Darley, Pauline M. Emerson, T. D. R. Hockaday, M Amherdt, A. A. Like, Benigna Blondel, B. Marliss, Claes B. Wollheim, Lorenzo A. Orci, Ole Andersen, Arne Andersson, F. M. Antonini, Carlo Fumagalli, E Petruzzi, G Bertini, Sabrina Mori, P Tinti, S. J. H. Ashcroft, Laksiri Weerasinghe, P. J. Randle, R Assan, Nicole A. Slusher, B Guy-Grand, Félix Girard, E. Soufflet, J R Attali, G. Ballerio, J. Boillot, Terence W. Atkins, A.J. Matty, Clifford J. Bailey, A. Aynsley-Green, Stephen R. Bloom, Robby Bacchus, Lawrence Meade, David London, L Balant, G Zahnd, B Petitpierre, J Fabré, Edmond Balasse, Madlen Neef, L Bárta, G Broóser, Mária Judit Molnár, D. Bataille, P Freychet, Patrick Kitabgi, G Rosselin, Christian Berne, J. Beyer, U. Cordes, G. Sell, C. Rosak, Κ. Schöffling, B Birkner, J. Henner, P. Wagner, F. Erhardt, P. Dieterlé, S R Bloom, N. J. A. Vaughan, Aliya Edwards, Lennart Boquist, Ingeborg A. Brand, Hans‐Dieter Söling, D. Brandenburg, J. Gliemann, H. Ooms, W. Puls, Axel Wollmer, Rafael A. Camerini-Dávalos, J. M. B. Bloodworth, Benjamin Limburg, W. Oppermann, Amanda Campbell, K. Siddle, José Cañadell, J Barraquer, A. Muiños, C. D. Heredia, J.L. Castillo-Olivares, J. Guijo, Luís Felipe Pallardo, Erol Cerasi, S. Efendić, R Luft, Erol Cerasi, J. Wahren, R Luft, Philip Felig, Niels Juel Christensen, Aa. Hein Christiansen, Aage Vølund, J. J. Connon, Elisabeth R. Trimble, Georges Copinschi, R Leclercq, Oscar D. Bruno, U. Cordes, G. Sell, J. Beyer, E Haupt, Κ. Schöffling, C. Creutzfeldt, Norman S. Track, Guy S Cuendet, C. B. Wollheim, Donald P. Cameron, L Balant, W. Stauffacher, E. B. Marliss, A Czyźyk, Lao B, W Bartosiewicz, Z Szczepanik, E. de Nobel, A. van’t Laar, R. A. P. Koene, Th. J. Benraad, G. Dietze, K. Hepp, M. Wickmayr, H. Mehnert, K. Dixon, P. D. Exon, Henry Hughes, D. W. Jones, R.S. Elkeles, P. D. Exon, K. Dixon, Margaret Fitzgerald, J. M. Malins, A Falorni, F Massi-Benedetti, G. Gallo, S Maffei, Domenico Fedele, Antonio Tiengo, Michele Muggeo, Paolo Fabris, G. Crepaldi, K. Federlin, K. Helmke, M. Slijepčević, E. F. Pfeiffer, J.-P. Felber, J Oulès, Christian Schindler, V. Chabot, A Fernández‐Cruz, Emma Beltrán Catalán, M. Luque Otero, O. García Hermida, M. Luque Otero, Emma Beltrán Catalán, J. P. Flatt, G. Blackburn, G. Randers, Hannah Forster, I. Hoos, D. Lerche, Hannah Forster, I. Hoos, M. Matthäus, J. R. M. Franckson, H. Ooms, H. Frerichs, H. Daweke, F. A. Gries, D Grüneklee, J. Hessing, K. Jahnkę, U. Keup, H. Miss, H Otto, W. Puls, Dan Schmidt, C. Zumfelde, Hansjoachim v. Funcke, G. Löffler, O. Wieland, D. J. Galton, Ruth Guttman, Gian C. Gazzola, Roberto Franchi, P. Ronchi, V. Saibene, Guido Guidotti, V Gligore, N Hîncu, R Tecuceanu, R. Goberna, F. Garcia-Albertos, Jorge Tamarit‐Rodriguez, E. del Rı́o, R. Roca, J. Gómez‐Acebo, A. V. Creco, G Fedeli, G. Ghirlanda, Riccardo Fenici, Michele Lucente, Alisa Gutman, Galila Agam, N. Nahas, P Cazalis, Erik Gylfe, Bo Hellman, D. R. Hadden, J. H. Connolly, D. A. D. Montgomery, J. A. Weaver, Claes Hellerström, Simon L. Howell, Arne Andersson, John C. Edwards, Janove Sehlin, I.‐B. Täljedal, W. Heptner, H. Neubauer, A. Herchuelz, Daniël Pipeleers, W. J. Malaisse, E. Lorca Herrera, E. Montoya, H Hommel, Ilana Fischer, Marc Schmid, H Fiedler, H Bibergeil, Jenny Iversen, Patrick B. Iynedjian, Georg Peters, C Jacquemin, Barbara Lambert, B. Ch. J. Sutter, A. Jakob, J. Zapf, E. R. Froesch, F. K. Jansen, G. Freytag, L. Herberg, R. J. Jarrett, Ian Baker, C. Jarrousse, F Rançon, G Rosselin, Didier Job, G Tchobroutsky, Eveline Eschwège, C Guyot-Argenton, J. P. Aubry, M. Déret, H. Karman, P. Mialhe, Ahmed H. Kissebah, B. Tulloch, Russell Fraser, Ahmed H. Kissebah, B. Tulloch, N. Vydelingum, Russell Fraser, J. Kissing, S. Raptis, Hans C. Dollinger, J. Faulhaber, G. Rothenbuchner, E. F. Pfeiffer, Jochen Kleineke, Heinrich Sauer, Hans‐Dieter Söling, J. Kloeze, Eva M. Kohner, Barbara A. Sutcliffe, Matthew Tudball, C. T. Dollery, W Korp, J. Neubert, H Bruneder, A. Lenhardt, R. E. Levett, Theodor Koschinsky, F. A. Gries, M. M. C. Landgraf-Leurs, R. Landgraf, R. Hörl, D. R. Langslow, H. Laube, R. Fußgänger, R. Mayer, E. F. Pfeiffer, H. Laube, R. Fußgänger, H. U. Klör,
Springer Science+Business Media
Gözde Yes, Anne Lebre, Dos Santos, Ömer Güran, Ipek Özahi, Valérie Cormier‐Daire, Tülay Güran, Reymundo Lozano, Scott M. Summers, Cristina Lozano, Yi Mu, David Hessl, Danh V. Nguyen, Flora Tassone, Randi J. Hagerman, April L. Dawson, Tiffany Riehle‐Colarusso, Jennita Reefhuis, José Fernándo, Beth A. Kozel, Susan Bayliss, David R. Berk, Jessica L. Waxler, Russell H. Knutsen, Joshua R. Danback, Barbara R. Pober, Hiroshi Ihara, Hiroyuki Ogata, Masayuki Sayama, Aya Kato, Masao Gito, Nobuyuki Murakami, Yasuhiro Kido, Toshiro Nagai, Stewart Einfeld, Ellie Smith, Iain McGregor, Kate Steinbeck, John Taffe, Lauren Rice, Siân K. Horstead, Naomi L. Rogers, Meryl Hodge, Adam J. Guastella, Karen W. Gripp, Cynthia J. Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica X. Chong, Lisa Genomics, Rebecca Pilchman, Deborah Sahraoui, Katia Stabley, Rajkumar Venkatramani, Logan G. Spector, Michael Georgieff, Gail E. Tomlinson, Mark Krailo, Marcio H. Malogolowkin, Wendy Kohlmann, Karen Curtin, Rachel Fonstad, Joshua D. Schiffman, María Raquel, Santos Carvalho, Gabrielle S. Vianna, Lívia De Fátima, Silva Oliveira, Annelise Júlio Costa, Pedro Pinheiro‐Chagas, Rosane Sturzenecker, Paulo Ricardo, Gazzola Zen, Rafael Fabiano, Machado Rosa, Marcos Burle De Aguiar, Vítor Geraldi Haase, Zachary S. Peacock, Katherine Klein, John B. Mulliken, Leonard B. Kaban, Erica Swenson, Lynn Schema, Elizabeth McPherson, Morten Krogh Herlin, Allan Thomas Højland, Michael Kai Petersen, Steven Mumm, Margaret Huskey, Shenghui Duan, Deborah Wenkert, Katherine Madson, Gary S. Gottesman, Angela Nenninger, Ronald M. Laxer, William Mcalister, Michael P. Whyte, Eric Londin, Jeffrey Adijanto, Nancy J. Philp, Antonio Novelli, Emilia Vitale, Chiara Perrìa, Gigliola Serra, Viola Alesi, Saul Surrey, Paolo Fortina, Lex Beets, Cristina Rodríguez‐Fonseca, Raoul C. M. Hennekam, Monika Goś, Somayyeh Fahiminiya, Jarosław Poznan, Jakub Klapecki, Ewa Obersztyn, Małgorzata Piotrowicz, Jolanta Wierzba, Renata Posmyk, Jerzy Bal, Jacek Majewski, Sheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, Dhanya Lakshmi Narayanan, Laxmi Devi Padmanabhan, Katta M. Girisha, Sara Cathey, Anne De Paepe, Fransiska Malfait, Delfi En Syx, Luisa Bonafé, Sheila Unger, Andrea Superti‐Furga, Cornel Popovici, Tiffany Busa, Odile Boute, Ann‐Charlotte Thuresson, Odile Perret, Sabine Sigaudy, Tommy Södergren, Joris Andrieux, Anne Moncla, Nicole Philip, Yavuz Bayram, Davut Pehli̇van, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga‐Jauregui, Wojciech Wiszniewski, Donna M. Muzny, Baylor-Hopkins Center, Mendelian Genomics, Nursel Elçioğlu, Metin Yıldırım, Banu Bozkurt, Gul Ayse, Eric Zamani, Richard Boerwinkle, James P. Gibbs, Anne‐Claude Tabet, Camille Leroy, Céline Dupont, Emilie Serrano, Karen Hernandez, Jennifer Gallard, Nathalie Pouvreau, Jean-Franc ̧ Ois Gadisseux, Brigitte Benzacken, Alain Verloès, Ali Al Kaissi, Rudolf Ganger, Katharina Rötzer, Klaus Klaushofer, Franz Grill, Véronique Pingault, L. Pierre-Louis, Asma Chaoui, Elisabeth Sarrazin, Göran Brandberg, Nadège Bondurand, Peter Uldall, Sylvie Manouvrier‐Hanu, Jonathan Edwards, Simone Martinelli, Luca Pannone, Ivan Fai, Man Yat Lo, Lisong Shi, Lisa Edelmann, Marco Tartaglia, Ho‐Ming Luk, Bruce D. Gelb, Radhika Dhamija, Salman Kirmani, Xiangling Wang, Matthew Ferber, Eric D. Wieben, Konstantinos Lazaridis, Dusica Babovic‐Vuksanovic, Ana S.A. Cohen, Katelin N. Townsend, Qing‐San Xiang, Raj Attariwala, Christof Borchers, Christof Senger, Wayne Picker, Jasna Levi, Lila Yewchuk, Joelle Tan, Patrice Eydoux, Amy Lum, Siu‐Li Yong, Margaret C. McKinnon, Scott A. Lear, R.W. Everett, Steven Jones, Stephen Yip, William Gibson, Claudia Castiglioni, Enrico Bertini, Paulina Orellana, Cynthia Villarroel, Las Facundo, Daniel Heras, Paola Hinzpeter, Jorge Paolinelli, Karin Bevilacqua, Piranit Nik Kantaputra, Massupa Kaewgahya, Atchareeya Wiwatwongwana, Damrong Wiwatwongwana, Rekwan Sittiwangkul, Anak Iamaroon, Prapai Dejkhamron, Vera Meloni, Roberta Santos Guilherme, Mariana Paulino Oliveira, Michele Patricia Migliavacca, S.S. Takeno, Nara Lygia, Macena Sobreira, María de Fátima, Faria Soares, Cláudia Berlim de Mello, Maria Melaragno, Joanna Lazier, Judy Chernos, R. Brian Lowry, Tadashi Ozawa, Reiji Koide, Yasuhiro Nakata, Hirotomo Saitsu, Naomichi Matsumoto, Kazushi Takahashi, Imaharu Nakano, Satoshi Orimo, Amanda Lindy, Caleb Bupp, Stephen Mcgee, Erin H. Steed, Roger E. Stevenson, Monica J. Basehore, Michael J. Friez, Eri Imagawa, Hülya Kayserili, Gen Nishimura, Mitsuko Nakashima, Yoshinori Tsurusaki, Shiro Ikegawa, Noriko Miyake, Wilmar Saldarriaga, Carolina Isaza, Eduardo E. Castilla, Can Liao, Dong‐Zhi Li, Bing Li, Deborah Krakow, Deborah A. Nickerson, Michael J. Bamshad, Yong Keun Chang, Ralph Lachman, Alev Yılmaz, Daniel Cohn, Andrew Solomon, Małgorzata J.M. Nowaczyk,
American Journal of Medical Genetics Part AVolume 164, Issue 9 p. fm i-fm v Table of ContentsFree Access Table of Contents, Volume 164A, Number 9, September 2014 First published: 13 August 2014 https://doi.org/10.1002/ajmg.a.36745AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept ...
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