Novel SUZ12 mutations in Weaver-like syndrome (2018)
- Authors:
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1111/cge.13415
- Subjects: MUTAÇÃO; PROTEÍNAS; GENÉTICA
- Agências de fomento:
- Financiado pela JSPS
- Japan Science and Technology Agency
- Ministry of Health, Labour and Welfare
- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
- Takeda Science Foundation [2013/02162-8, 2013/03236-5]
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
- Ministry of Education, Culture, Sports, Science and Technology
- Japan Agency for Medical Research and Development [JP18kk020500, JP18ek0109348, JP18ek0109301, JP18dm0107090, JP18ek0109280]
- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
- Language: Inglês
- Imprenta:
- Source:
- Título: Clinical genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 94, n. 5, p. 461-466, 2018
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
IMAGAWA, Eri e JORGE, Alexander Augusto de Lima. Novel SUZ12 mutations in Weaver-like syndrome. Clinical genetics, v. 94, n. 5, p. 461-466, 2018Tradução . . Disponível em: https://doi.org/10.1111/cge.13415. Acesso em: 29 jan. 2026. -
APA
Imagawa, E., & Jorge, A. A. de L. (2018). Novel SUZ12 mutations in Weaver-like syndrome. Clinical genetics, 94( 5), 461-466. doi:10.1111/cge.13415 -
NLM
Imagawa E, Jorge AA de L. Novel SUZ12 mutations in Weaver-like syndrome [Internet]. Clinical genetics. 2018 ; 94( 5): 461-466.[citado 2026 jan. 29 ] Available from: https://doi.org/10.1111/cge.13415 -
Vancouver
Imagawa E, Jorge AA de L. Novel SUZ12 mutations in Weaver-like syndrome [Internet]. Clinical genetics. 2018 ; 94( 5): 461-466.[citado 2026 jan. 29 ] Available from: https://doi.org/10.1111/cge.13415 - Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients
- Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
- Genetic short stature
- Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency
- A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice
- Aplicações clínicas dos testes genéticos em endocrinologia
- Abordagem clínica
- Hormone resistance and short stature: a journey through the pathways of hormone signaling
Informações sobre o DOI: 10.1111/cge.13415 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
