Bertola Débora R - Inst Crianca, Univ Sao Paulo

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论文共 298 篇作者统计合作学者相似作者

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Novel Compound Heterozygous ABCA2 Variants Cause IDPOGSA, a Variable Phenotypic Syndrome with Intellectual Disability

Yuta Inoue,Naomi Tsuchida,Chong Ae Kim,Bruno de Oliveira Stephan,Matheus Augusto Araujo Castro,Rachel Sayuri Honjo,Debora Romeo Bertola,Yuri Uchiyama,Kohei Hamanaka,Atsushi Fujita,Eriko Koshimizu,Kazuharu Misawa,Satoko Miyatake,Takeshi Mizuguchi,Naomichi Matsumoto

JOURNAL OF HUMAN GENETICS (2024)

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Low-pass Whole Genome Sequencing As a Cost-Effective Alternative to Chromosomal Microarray Analysis for Low- and Middle-Income Countries

Patricia C. Mazzonetto,Darine Villela,Ana C. V. Krepischi,Paulo M. Pierry,Adriano Bonaldi,Luiz Gustavo D. Almeida,Marcelo G. Paula, Matheus Carvalho Burger, Ana Gabriela de Oliveira, Gustavo G. G. Fonseca, Roberto Giugliani, Mariluce Riegel-Giugliani,Debora Bertola,Guilherme Lopes Yamamoto,Maria Rita Passos-Bueno,Gabriele da Silva Campos, Ana Claudia Dantas Machado,Juliana F. Mazzeu,Eduardo Perrone,Roseli M. Zechi-Ceide,Nancy M. Kokitsu-Nakata,Tarsis Paiva Vieira,Carlos Eduardo Steiner,Vera Lucia Gil-da-Silva-Lopes, Daniela Koeller Rodrigues Vieira,Raquel Boy,Joao Monteiro de Pina-Neto,Cristovam Scapulatempo-Neto,Fernanda Milanezi,Carla Rosenberg

American Journal of Medical Genetics Part A (2024)

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A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis

Laura Machado Lara Carvalho,Alexander Augusto de Lima Jorge,Debora Romeo Bertola,Ana Cristina Victorino Krepischi,Carla Rosenberg

Current obesity reportsno. 2 (2024): 313-337

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Immunocompetent Brain Organoids with Microglia Allow Advanced Aging Research

Raiane Oliveira Ferreira,Amanda Faria Assoni,Monize Valéria Ramos da Silva, Letícia Alves da Rocha,Mateus Vidigal de Castro,Débora Bertola,Mayana Zatz

Methods in molecular biology (Clifton, NJ) (2024)

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The First Brazilian Clinical Report of Kleefstra Syndrome, Including Semicircular Canals Agenesis As a Possible Phenotype Expansion

Eduardo Da Cas, Lucas V. L. Pires,Bianca D. W. Linnenkamp, Marcella C. Allegro,Rachel S. Honjo,Debora R. Bertola,Hiromi Aoi,Naomichi Matsumoto,Chong Ae Kim

EUROPEAN JOURNAL OF MEDICAL GENETICS (2024)

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Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders

Giovanna Cantini Tolezano,Giovanna Civitate Bastos,Silvia Souza da Costa,Marília de Oliveira Scliar,Carolina Fischinger Moura de Souza, Hélio Van Der Linden Jr, Walter Luiz Magalhães Fernandes,Paulo Alberto Otto,Angela M. Vianna-Morgante,Luciana Amaral Haddad,Rachel Sayuri Honjo,Guilherme Lopes Yamamoto,Chong Ae Kim,Carla Rosenberg,Alexander Augusto de Lima Jorge,Débora Romeo Bertola,Ana Cristina Victorino Krepischi

MOLECULAR NEUROBIOLOGYno. 8 (2024): 5230-5247

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Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue P.phe285

Lucas Vieira Lacerda Pires, Eduardo Da Cas, Leticia Cole de Melo, Cleyde Mirian Aversa Nakaie, Vera Dermachi Aiello,Guilherme Lopes Yamamoto,Rachel Sayuri Honjo,Chong Ae Kim,Debora Romeo Bertola

MOLECULAR SYNDROMOLOGY (2024)

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Whole Genome Sequencing As a First-Tier Diagnostic Test for Infants in Neonatal Intensive Care Units: A Pilot Study in Brazil

Michele P. Migliavacca,Joselito Sobreira, Diana Bermeo, Mireille Gomes, Dayse Alencar, Luciane Sussuchi,Camila Alves Souza,Juliana Santos Silva,Jose Eduardo Kroll,Matheus Burger,Rodrigo Guarischi-Sousa,Darine Villela,Guilherme L. Yamamoto,Fernanda Milanezi,Nelson Horigoshi,Regina Grigolli Cesar,Werther Brunow de Carvalho,Rachel Sayuri Honjo,Debora Romeo Bertola,Chong Ae Kim,Lucian de Souza, Renato S. Procianoy, Rita C. Silveria,Carla Rosenberg, Roberto Giugliani,Gustavo Aguiar Campana,Cristovam Scapulatempo-Neto,Nara Sobreira

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 6 (2024)

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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

Giovanna Cantini Tolezano,Giovanna Civitate Bastos,Silvia Souza da Costa,Bruna Lucheze Freire,Thais Kataoka Homma,Rachel Sayuri Honjo,Guilherme Lopes Yamamoto,Maria Rita Passos-Bueno,Celia Priszkulnik Koiffmann,Chong Ae Kim,Angela Maria Vianna-Morgante,Alexander Augusto de Lima Jorge,Débora Romeo Bertola,Carla Rosenberg,Ana Cristina Victorino Krepischi

Journal of Autism and Developmental Disorders（2024）

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Nosology of Genetic Skeletal Disorders: 2023 Revision

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 5 (2023): 1164-1209

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