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Genoir Simoni

Observed names: G. Simoni, Simoni Genoir
ORCID: 0000-0002-3888-533X
Observed ORCID: 0000-0002-3888-533X
OpenAlex ID: A5013924353
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings
2010 · Patricia N Pugliese-Pires, Carlos A Tonelli, et al. · European Journal of Endocrinology · 64
Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia
2014 · Marilza Leal Nascimento, Anísia Nhelety Baptista Cristiano, et al. · Arquivos Brasileiros de Endocrinologia & Metabologia · 26
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Genetic Analysis of Osteogenesis Imperfecta in a Large Brazilian Cohort
2022 · A.P. Holtz, L.T. Souza, et al. · Bone · 16
Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results
2020 · Marilza Leal Nascimento, Andre Leal Nascimento, et al. · Archives of Endocrinology and Metabolism · 14
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Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento
2012 · Marilza Leal Nascimento, Fernanda Hostim Rabello, et al. · Arquivos Brasileiros de Endocrinologia & Metabologia · 6
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Congenital hypothyroidism screening program: preliminary results
1997 · Marilza L. Nascimento, Paulo C. A. Silva, et al. · Jornal de Pediatria · 6
Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening
2024 · Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, et al. · Archives of Endocrinology and Metabolism · 2
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Predictors of Quality of Life of Children and Adolescents with Osteogenesis Imperfecta
2022 · Lee Juliana van de Sande, Simoni Genoir, et al. · International Journal of Rare Diseases & Disorders · 2
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Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
2026 · Luiz Claudio Gonçalves de Castro, Julienne Angela Ramires de Carvalho, et al. · Orphanet Journal of Rare Diseases
Additional file 1 of Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
2026 · Luiz Claudio Gonçalves de Castro, Julienne Angela Ramires de Carvalho, et al. · Figshare
Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
2026 · Luiz Claudio Gonçalves de Castro, Julienne Angela Ramires de Carvalho, et al. · Figshare
Additional file 2 of Vosoritide therapy in Brazil: Consensus on the Diagnosis, Monitoring, and Management of Achondroplasia
2026 · Luiz Claudio Gonçalves de Castro, Julienne Angela Ramires de Carvalho, et al. · Figshare
Treatment With Pamidronate in Children and Adolescents With Osteogenesis Imperfecta in Santa Catarina
2024 · Bruna Orth Ripke, Sofia Mueller Linhares, et al. · International Journal of Health Science
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MON-LB036 Uncommon Findings in Beckwith-Wiedemann Syndrome
2020 · Jéssica M E S Martins, Tamires S Garcia, et al. · Journal of the Endocrine Society
Works count: 14
Citation count: 136
H-index: 6
I10-index: 4
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