Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? by José RM Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola

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Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients by Maria Helena Vaisbich, Juliana Carneiro, Wolfanga Bóson, Bruna Resende, Luiz De Marco, Rachel S Honjo, Chong Ae Kim, Vera H Koch

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Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers by Roberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim

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Cognitive and behavioral profile of Williams Syndrome toddlers by Ana Claúdia Braga, Luiz Renato Rodrigues Carreiro, Tally Lichtensztejn Tafla, Nadia Maria Giaretta Ranalli, Maria Fernanda Costa e Silva, Rachel Sayuri Honjo, Chong Ae Kim, Maria Cristina Triguero Veloz Teixeira

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Natural history of 39 patients with Achondroplasia by Jose Ricardo Magliocco Ceroni, Diogo Cordeiro de Queiroz Soares, Larissa de Cássia Testai, Rachel Sayuri Honjo Kawahira, Guilherme Lopes Yamamoto, Sofia Mizuho Miura Sugayama, Luiz Antonio Nunes de Oliveira, Debora Romeo Bertola, Chong Ae Kim

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Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America by Martha L. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability by Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

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