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| Issue Date | Title | Author(s) |
|---|---|---|
| 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 | 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 |
| 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 |
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