Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency (2017)
- Autor:
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1159/000481792
- Subjects: ESTATURA; SEQUENCIAMENTO GENÉTICO; TRANSTORNOS DO CRESCIMENTO
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone research in paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 88, n. 6, p. 421-422, 2017
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
JORGE, Alexander Augusto de Lima. Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency. Hormone research in paediatrics, v. 88, n. 6, p. 421-422, 2017Tradução . . Disponível em: https://doi.org/10.1159/000481792. Acesso em: 11 jul. 2025. -
APA
Jorge, A. A. de L. (2017). Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency. Hormone research in paediatrics, 88( 6), 421-422. doi:10.1159/000481792 -
NLM
Jorge AA de L. Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency [Internet]. Hormone research in paediatrics. 2017 ; 88( 6): 421-422.[citado 2025 jul. 11 ] Available from: https://doi.org/10.1159/000481792 -
Vancouver
Jorge AA de L. Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency [Internet]. Hormone research in paediatrics. 2017 ; 88( 6): 421-422.[citado 2025 jul. 11 ] Available from: https://doi.org/10.1159/000481792 - Aplicação da genética molecular no manejo dos distúrbios do crescimento
- Deficiência da STAT5B: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico
- Growth hormone therapy in children; research and practice: a review
- Deficiências hipotálamo-hipofisárias múltiplas por mutações no gene GLI2
- Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations
- Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (MODY): the journey towards appropriate treatment
- A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings
- Management of endocrine disease: Diagnostic and therapeutic approach of tall stature
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Abordagem clínica
Informações sobre o DOI: 10.1159/000481792 (Fonte: oaDOI API)
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