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Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
- Ana Julia da Cunha Leite,
- Irene Plaza Pinto,
- Nico Leijsten,
- Martina Ruiterkamp-Versteeg,
- Rolph Pfundt,
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Nicole de Leeuw,
Roles Data curation, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Department of Human Genetics, Radboud University Medical Center, University Nijmegen Medical Centre, Nijmegen, Netherlands
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Aparecido Divino da Cruz,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliations Genetics and Molecular Biology Graduate Program, Federal University of Goiás, Goiânia, Goiás, Brazil, Replicon Research Group, Master Program in Genetics, School of Medical and Life Science, Pontifical Catholic University of Goiás, Goiânia, Goiás, Brazil, Human Cytogenetics and Molecular Genetics Laboratory, State Health Secretary of Goiás, Pontifical Catholic University of Goiás, Goiânia, Goiás, Brazil
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Lysa Bernardes Minasi
Roles Conceptualization, Formal analysis, Investigation, Methodology, Supervision, Writing – review & editing
* E-mail: minasilb@gmail.com
Affiliation Replicon Research Group, Master Program in Genetics, School of Medical and Life Science, Pontifical Catholic University of Goiás, Goiânia, Goiás, Brazil
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https://orcid.org/0000-0002-9796-3342
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
- Ana Julia da Cunha Leite,
- Irene Plaza Pinto,
- Nico Leijsten,
- Martina Ruiterkamp-Versteeg,
- Rolph Pfundt,
- Nicole de Leeuw,
- Aparecido Divino da Cruz,
- Lysa Bernardes Minasi
- Published: April 7, 2022
- https://doi.org/10.1371/journal.pone.0266493