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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 |
| 2019 | Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing | HOMMA, Thais Kataoka; FREIRE, Bruna Lucheze; KAWAHIRA, Rachel Sayuri Honjo; DAUBER, Andrew; FUNARI, Mariana Ferreira de Assis; LERARIO, Antonio Marcondes; NISHI, Mirian Yumie; ALBUQUERQUE, Edoarda Vasco de; VASQUES, Gabriela de Andrade; COLLETT-SOLBERG, Paulo Ferrez; SUGAYAMA, Sofia Mizuho Miura; BERTOLA, Debora Romeo; KIM, Chong Ae; ARNHOLD, Ivo Jorge Prado; MALAQUIAS, Alexsandra Christianne; JORGE, Alexander Augusto de Lima |
| 2019 | Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 | SAIDA, Ken; KIM, Chong Ae; CERONI, Jose Ricardo Magliocco; BERTOLA, Debora Romeo; HONJO, Rachel Sayuri; MITSUHASHI, Satomi; TAKATA, Atsushi; MIZUGUCHI, Takeshi; MIYATAKE, Satoko; MIYAKE, Noriko; MATSUMOTO, Naomichi |
| 2019 | Associations between fetal testosterone and pro-social tendencies, anxiety and autistic symptoms in Williams syndrome: a preliminary study | OSORIO, Ana Alexandra Caldas; EGITO, Julia Horta Tabosa do; MARTINS, Gabriela Carneiro; KIM, Chong Ae; HONJO, Rachel Sayuri; SAMPAIO, Adriana da Conceicao Soares; MESQUITA, Ana Raquel Marcelino; MACEDO, Elizeu Coutinho; BOGGIO, Paulo Sergio; TEIXEIRA, Maria Cristina Triguero Veloz |
| 2019 | Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation | GUO, 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 |
| 2019 | Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome | AOI, 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 |
| 2019 | Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome | DANTAS, Anelisa Gollo; SANTORO, Marcos Leite; NUNES, Natalia; MELLO, Claudia Berlim de; PIMENTA, Larissa Salustiano Evangelista; MELONI, Vera Ayres; SOARES, Diogo Cordeiro Queiroz; BELANGERO, Sintia Nogueira; CARVALHEIRA, Gianna; KIM, Chong Ae; MELARAGNO, Maria Isabel |
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