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Results 1-10 of 47 (Search time: 0.069 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2012 | Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region | SOARES, Diogo Cordeiro de Queiroz; DUTRA, Roberta Lelis; QUAIO, Caio Robledo D'angioli Costa; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie Domenici; TORRES, Leuridan Cavalcante; KIM, Chong Ae |
| 2012 | Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty | HONJO, Rachel Sayuri; DUTRA, Roberta Lelis; NUNES, Michele Moreira; GOMY, Israel; KULIKOWSKI, Leslie Domenici; JEHEE, Fernanda Sarquis; KIM, Chong Ae |
| 2013 | Ring chromosome 10: report on two patients and review of the literature | GUILHERME, Roberta Santos; KIM, Chong Ae; ALONSO, Luis Garcia; HONJO, Rachel S.; MELONI, Vera Ayres; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria Isabel |
| 2019 | Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta | MOOSA, Shahida; YAMAMOTO, Guilherme L.; GARBES, Lutz; KEUPP, Katharina; BELEZA-MEIRELES, Ana; MORENO, Carolina Araujo; VALADARES, Eugenia Ribeiro; SOUSA, Sergio B. de; MAIA, Sofia; SARAIVA, Jorge; HONJO, Rachel S.; KIM, Chong Ae; MENEZES, Hamilton Cabral de; LAUSCH, Ekkehart; LORINI, Pablo Villavicencio; LAMOUNIER JR., Arsonval; CARNIERO, Tulio Canella Bezerra; GIUNTA, Cecilia; ROHRBACH, Marianne; JANNER, Marco; SEMLER, Oliver; BELEGGIA, Filippo; LI, Yun; YIGIT, Goekhan; REINTJES, Nadine; ALTMUELLER, Janine; NUERNBERG, Peter; CAVALCANTI, Denise P.; ZABEL, Bernhard; WARMAN, Matthew L.; BERTOLA, Debora R.; WOLLNIK, Bernd; NETZER, Christian |
| 2019 | Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III | CERONI, Jose Ricardo Magliocco; SPOLADOR, Gustavo Marquezani; BERMEO, Diana Salazar; HONJO, Rachel Sayuri; OLIVEIRA, Luiz Antonio Nunes de; BERTOLA, Debora Romeo; KIM, Chong Ae |
| 2020 | Genetic investigation of patients with tall stature | ALBUQUERQUE, Edoarda Vasco de Albuquerque; FUNARI, Mariana Ferreira de Assis; QUEDAS, Elisangela Pereira de Souza; KAWAHIRA, Rachel Sayuri Honjo; JALLAD, Raquel Soares; HOMMA, Thais Kataoka; MARTIN, Regina Matsunaga; BRITO, Vinicius Nahime; MALAQUIAS, Alexsandra Christianne; LERARIO, Antonio Marcondes; ROSENBERG, Carla; KREPISCHI, Ana Cristina Victorino; KIM, Chong Ae; ARNHOLD, Ivo Jorge Prado; JORGE, Alexander Augusto de Lima |
| 2019 | Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation | BASTOS, Karina Lucio de Medeiros; QUAIO, Caio Robledo; LIMA, Fabiana Roberto; ARAUJO, Iana Manuelle; ARAUJO, Candice Alves Tavares; PIAZZON, Flavia Balbo; SILVA, Ismael Dale Cotrim Guerreiro da; BENEVIDES, Gabriel Nuncio; TANNURI, Ana Cristina; TANNURI, Uenis; AZEVEDO, Ramiro Anthero; KIM, Chong Ae |
| 2018 | Cognitive and behavioral profile of Williams Syndrome toddlers | BRAGA, Ana Claúdia; CARREIRO, Luiz Renato Rodrigues; TAFLA, Tally Lichtensztejn; RANALLI, Nadia Maria Giaretta; SILVA, Maria Fernanda Costa e; HONJO, Rachel Sayuri; KIM, Chong Ae; TEIXEIRA, Maria Cristina Triguero Veloz |
| 2017 | Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience | ZANARDO, Evelin Aline; DUTRA, Roberta Lelis; PIAZZON, Flavia Balbo; DIAS, Alexandre Torchio; NOVO-FILHO, Gil Monteiro; NASCIMENTO, Amom Mendes; MONTENEGRO, Marilia Moreira; DAMASCENO, Jullian Gabriel; MADIA, Fabricia Andreia Rosa; COSTA, Thais Virginia Moura Machado da; MELARAGNO, Maria Isabel; KIM, Chong Ae; KULIKOWSKI, Leslie Domenici |
| 2021 | Insights from the genetic characterization of central precocious puberty associated with multiple anomalies | CANTON, Ana Pinheiro Machado; KREPISCHI, Ana Cristina Victorino; MONTENEGRO, Luciana Ribeiro; COSTA, Silvia; ROSENBERG, Carla; STEUNOU, Virginie; SOBRIER, Marie-Laure; SANTANA, Lucas; HONJO, Rachel Sayuri; KIM, Chong Ae; ZEGHER, Francis de; IDKOWIAK, Jan; GILLIGAN, Lorna C.; ARLT, Wiebke; FUNARI, Mariana Ferreira de Assis; JORGE, Alexander Augusto de Lima; MENDONCA, Berenice Bilharinho; NETCHINE, Irene; BRITO, Vinicius Nahime; LATRONICO, Ana Claudia |