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Turner syndrome and neuropsychological abnormalities: a review and case series

Revista Paulista de Pediatria
2025 | Journal article
Contributors: Bruna Baierle Guaraná; Marcela Rodrigues Nunes; Victória Feitosa Muniz; Bruna Lixinski Diniz; Maurício Rouvel Nunes; Ana Kalise Böttcher; Rafael Fabiano Machado Rosa; Rafaella Mergener; Paulo Ricardo Gazzola Zen
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What Can Really Be Considered a Syndrome? An Insight Based on 16p11.2 Microduplication

Cell Biochemistry and Function
2024-10 | Journal article
Contributors: Rafaella Mergener; Lívia Polisseni Cotta Nascimento; Ana Kalise Böttcher; Marcela Rodrigues Nunes; Paulo Ricardo Gazzola Zen
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invdup(8)(8q24.13q24.3)—A Complex Alteration and Its Clinical Consequences

Genes
2024-07-12 | Journal article
Contributors: Rafaella Mergener; Marcela Rodrigues Nunes; Ana Kalise Böttcher; Monique Banik Siqueira; Helena Froener Peruzzo; Milene Carvalho Merola; Mariluce Riegel; Paulo Ricardo Gazzola Zen
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Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome

eLife
2022-02-24 | Journal article
Contributors: Wouter Huiting; Suzanne L Dekker; Joris CJ van der Lienden; Rafaella Mergener; Maiara K Musskopf; Gabriel V Furtado; Emma Gerrits; David Coit; Mehrnoosh Oghbaie; Luciano H Di Stefano et al.
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Targeting DNA topoisomerases or checkpoint kinases results in an overload of chaperone systems, triggering aggregation of a metastable subproteome

2021-06-04 | Other
Contributors: Wouter Huiting; Suzanne L. Dekker; Joris C. J. van der Lienden; Rafaella Mergener; Gabriel V. Furtado; Emma Gerrits; Maiara K. Musskopf; Mehrnoosh Oghbaie; Luciano H. Di Stefano; Maria A.W.H. van Waarde-Verhagen et al.
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Variation in DNA Repair System Gene as an Additional Modifier of Age at Onset in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease

NeuroMolecular Medicine
2020-03-05 | Journal article
Contributors: Rafaella Mergener; Gabriel Vasata Furtado; Eduardo Preusser de Mattos; Vanessa Bielefeldt Leotti; Laura Bannach Jardim; Maria Luiza Saraiva-Pereira
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