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Results 1-10 of 47 (Search time: 0.007 seconds).
Issue DateTitleAuthor(s)
2020Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestationHONJO, Rachel Sayuri; VACA, Evelyn Cristina Nunez; LEAL, Gabriela Nunes; ABELLAN, Deipara Monteiro; IKARI, Nana Miura; JATENE, Marcelo Biscegli; MARTINS, Ana Maria; KIM, Chong Ae
2012Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 regionSOARES, 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
2012Atypical Deletion in Williams-Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning DifficultyHONJO, Rachel Sayuri; DUTRA, Roberta Lelis; NUNES, Michele Moreira; GOMY, Israel; KULIKOWSKI, Leslie Domenici; JEHEE, Fernanda Sarquis; KIM, Chong Ae
2013Ring chromosome 10: report on two patients and review of the literatureGUILHERME, Roberta Santos; KIM, Chong Ae; ALONSO, Luis Garcia; HONJO, Rachel S.; MELONI, Vera Ayres; CHRISTOFOLINI, Denise Maria; KULIKOWSKI, Leslie Domenici; MELARAGNO, Maria Isabel
2018Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndromeFURUSAWA, Erika Arai; ESPOSITO, Camila Sanches Lanetzki; HONJO, Rachel Sayuri; SUZUKI, Lisa; LEAL, Gabriela Nunes; KIM, Chong Ae; SCHVARTSMAN, Benito Galassi Soares
2019Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeAOI, Hiromi; MIZUGUCHI, Takeshi; CERONI, Jose Ricard; KIM, Veronica Eun Hue; FURQUIM, Isabel; HONJO, Rachel S.; IWAKI, Takuma; SUZUKI, Toshifumi; SEKIGUCHI, Futoshi; UCHIYAMA, Yuri; AZUMA, Yoshiteru; HAMANAKA, Kohei; KOSHIMIZU, Eriko; MIYATAKE, Satoko; MITSUHASHI, Satomi; TAKATA, Atsushi; MIYAKE, Noriko; TAKEDA, Satoru; ITAKURA, Atsuo; BERTOLA, Debora R.; KIM, Chong Ae; MATSUMOTO, Naomichi
2019Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaMOOSA, 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
2019Clinical and radiological findings in Brazilian patients with mucolipidosis types II/IIICERONI, Jose Ricardo Magliocco; SPOLADOR, Gustavo Marquezani; BERMEO, Diana Salazar; HONJO, Rachel Sayuri; OLIVEIRA, Luiz Antonio Nunes de; BERTOLA, Debora Romeo; KIM, Chong Ae
2019Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain MalformationGUO, Long; BERTOLA, Debora Romeo; TAKANOHASHI, Asako; SAITO, Asuka; SEGAWA, Yuko; YOKOTA, Takanori; ISHIBASHI, Satoru; NISHIDA, Yoichiro; YAMAMOTO, Guilherme Lopes; FRANCO, Jose Francisco da Silva; HONJO, Rachel Sayuri; KIM, Chong Ae; MUSSO, Camila Manso; TIMMONS, Margaret; PIZZINO, Amy; TAFT, Ryan J.; LAJOIE, Bryan; KNIGHT, Melanie A.; FISCHBECK, Kenneth H.; SINGLETON, Andrew B.; FERREIRA, Carlos R.; WANG, Zheng; YAN, Li; GARBERN, James Y.; SIMSEK-KIPER, Pelin O.; OHASHI, Hirofumi; ROBEY, Pamela G.; BOYDE, Alan; MATSUMOTO, Naomichi; MIYAKE, Noriko; SPRANGER, Juergen; SCHIFFMANN, Raphael; VANDERVER, Adeline; NISHIMURA, Gen; PASSOS-BUENO, Maria Rita dos Santos; SIMONS, Cas; ISHIKAWA, Kinya; IKEGAWA, Shiro
2020Genetic investigation of patients with tall statureALBUQUERQUE, 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