Investigação genética (2022)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: FARMACOGENÉTICA; ENDOCRINOLOGIA
- Language: Português
- Imprenta:
- Publisher: Atheneu
- Publisher place: Rio de Janeiro
- Date published: 2022
- ISBN: 9786555862980
- Source:
- Título: Endocrinologia e Metabologia
-
ABNT
JORGE, Alexander Augusto de Lima e SOUZA, Bruno Ferraz e MENDONCA, Berenice Bilharinho de. Investigação genética. Endocrinologia e Metabologia. Tradução . Rio de Janeiro: Atheneu, 2022. . . Acesso em: 29 dez. 2025. -
APA
Jorge, A. A. de L., Souza, B. F., & Mendonca, B. B. de. (2022). Investigação genética. In Endocrinologia e Metabologia. Rio de Janeiro: Atheneu. -
NLM
Jorge AA de L, Souza BF, Mendonca BB de. Investigação genética. In: Endocrinologia e Metabologia. Rio de Janeiro: Atheneu; 2022. [citado 2025 dez. 29 ] -
Vancouver
Jorge AA de L, Souza BF, Mendonca BB de. Investigação genética. In: Endocrinologia e Metabologia. Rio de Janeiro: Atheneu; 2022. [citado 2025 dez. 29 ] - Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
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- Rare causes and differential diagnosis in patients with Silver-Russell Syndrome
- Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations
- Novel Mutations in the Growth Hormone Secretagogue Receptor Gene (GHSR) Associated with Constitutional Delay in Growth and Puberty (CDGP)
- Baixa estatura desproporcional por mutações no gene SHOX
- Evaluation of SHOX defects in the era of next-generation sequencing
- ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome
- Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
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