Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Artigo
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Herpetiform keratitis and palmoplantar hyperkeratosis warning signs for Richner-Hanhart syndromeDiogo C. Soares Mariana N Stroparo; Yu C Lian; Cristina Y Takakura; Sabrina Wolf; Regina Betz; Chong A KimJournal of Inherited Metabolic Disease Lancaster v. 40, n. , p. 461-462, 2017Lancaster 2017Localização: FM - Fac. Medicina (BCSEP 228 2017 )(Acessar) |
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2 |
Material Type: Artigo
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How Coronavirus Disease 2019 Changed Dermatology Practice in 1 Year Around the World from 11 CountriesQisi Sun Devon E Mcmahon; Pearl O Ugwu-dike; Qiuning Sun; Keyun Tang; Hanlin Zhang; Poonkiat Suchonwanit; Choon Chiat Oh; Alvin H Chong; Anneliese Willems; Jose Antonio Sanches JuniorDermatologic clinics v. 39, n. 4, p. 639-651, 2021Philadelphia 2021Acesso online. A biblioteca também possui exemplares impressos. |
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3 |
Material Type: Artigo
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CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritisMarina Cadena Matta Diogo Cordeiro Soares; Marcelo Soares Kerstenetzky; Augustus Cesar Pinto Freitas; Chong Ae Kim; Leuridan Cavalcante TorresHuman Immunology Philadelphia v. 77, n. 2, p. 196-200, 2016Philadelphia 2016Localização: FM - Fac. Medicina (BCSEP 120 2016 )(Acessar) |
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4 |
Material Type: Artigo
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Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseasesCaio Robledo D'Angioli Costa Quaio Jose Ricardo Magliocco Ceroni; Murilo Castro Cervato; Helena Strelow Thurow; Caroline Monaco Moreira; Ana Carolina Gomes Trindade; Cintia Reys Furuzawa; Rafaela Rogerio Floriano de Souza; Sandro Felix Perazzio; Aurelio Pimenta Dutra; Chong Ae KimScientific reports v. 12, n. 1, article ID 7764, 9p, 2022Berlin 2022Acesso online. A biblioteca também possui exemplares impressos. |
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5 |
Material Type: Artigo
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Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutationsGabriela Coutinho Midori Mitui; Catarina Campbell; Beatriz T. Costa Carvalho; Shareef Nahas; Xia Sun; Yong Huo; Chih-hung Lai; Yvonne Thorstenson; Robert Tanouye; Salmo Raskin; Chong Ae Kim; Juan Llerena Junior; Richard A GattiAmerican Journal of Medical Genetics Salt Lake City v. 126A, n. 1, p. 33-40, april 2004Salt Lake City 2004Localização: FM - Fac. Medicina (FM BCBIB )(Acessar) |
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6 |
Material Type: Artigo
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Five haplotypes account for fifty-five percent of ATM mutations in brazilian patients with ataxia telangiectasia seven new mutationsGabriela Coutinho Midori Mitui; Catarina Campbell; Beatriz T. Costa Carvalho; Shareef Nahas; Xia Sun; Yong Huo; Chih-hung Lai; Yvonne Thorstenson; Robert Tanouye; Salmo Raskin; Chong Ae Kim; Juan Llerena Junior; Richard A GattiAmerican Journal of Medical Genetics Salt Lake City v. 126A, n. 1, p. 33-40, april 2004Salt Lake City 2004Localização: FM - Fac. Medicina (FM BCBIB )(Acessar) |
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7 |
Material Type: Artigo
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Sanfilippo syndrome type B analysis of patients diagnosed by the MPS Brazil NetworkYorran Hardman Araujo Montenegro Carolina Fischinger Moura de Souza; Francyne Kubaski; Franciele Barbosa Trapp; Maira Graeff Burin; Kristiane Michelin-Tirelli; Sandra Leistner-Segal; Ana Carolina Brusius Facchin; Fernanda S Medeiros; Chong Ae KimAmerican journal of medical genetics part a v. 188, n. 3, p. 760-767, 2022Hoboken 2022Acesso online. A biblioteca também possui exemplares impressos. |
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8 |
Material Type: Artigo
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Vertebral segmentation defects in a Brazilian cohort. [Carta] clinical and molecular analysis focused on spondylocostal dysostosisBianca Linnenkamp Raissa Girardi; Leticia Rocha; Guilherme Yamamoto; Jose Ricardo Ceroni; Antonia Elisabeth Cristhina Mendes; Rachel Honjo; Luiz Antonio Oliveira; Raphael Bruno Amemiya; Chong Ae KimClinical genetics v. 101, n. 4, p. 476-478, 2022Hoboken 2022Acesso online. A biblioteca também possui exemplares impressos. |
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9 |
Material Type: Artigo
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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities The Brazilian experienceÉvelin Aline Zanardo Roberta Lelis Dutra; Flavia Balbo Piazzon; Alexandre Torchio Dias; Gil Monteiro Novo-Filho; Amom Mendes Nascimento; Marília Moreira Montenegro; Jullian Gabriel Damasceno; Fabrícia Andreia Rosa Madia; Thaís Virgínia Moura Machado da Costa; Maria Isabel Melaragno; Chong Ae Kim; Leslie Domenici KulikowskiClinics São Paulo v. 72, n. 9, p. 526-537, 2017São Paulo 2017Localização: FM - Fac. Medicina (BCSEP 004 2017 )(Acessar) |