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Refinado por: autor: Lerario, A remover nível superior: Disponível na Biblioteca remover
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1
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure
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A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure

Monica M. Franca Mariana F. A Funari; Antonio M Lerario; Mirian Y Nishi; Carmen C Pita; Eveline G. P Fontenele; Berenice Bilharinho de Mendonça

Endocrine v. 58, n. 3, p. 442-447, 2017

New York 2017

Localização: FM - Fac. Medicina    (OPI 24178 2017 )(Acessar)

2
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
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Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Gabriela A. Vasques Alfonso Hisado-Oliva; Mariana F. A Funari; Antonio M Lerario; Elisangela P. S Quedas; Paulo Solberg; Karen E Heath; Alexander A. L Jorge

Journal of pediatric endocrinology & metabolism London v. 30, n. 1, p. 111-116, 2017

London 2017

Localização: FM - Fac. Medicina    (BCSEP 045 2017 )(Acessar)

3
Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHR
Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHR
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Genetic diagnosis of congenital hypopituitarism by a target gene panel novel pathogenic variants in GLI2, OTX2 and GHRHR

Marilena Nakaguma Fernanda A Correa; Lucas S Santana; Anna F. F Benedetti; Ricardo Perez V; Martha K. P Huayllas; Mirta B Miras; Mariana F. A Funari; Antonio M Lerario; Berenice Bilharinho de Mendonça; Alexander Augusto de Lima Jorge

Endocrine connections v. 8, n. 5, p. 590-595, 2019

Bristol 2019

Acesso online. A biblioteca também possui exemplares impressos.

4
Multigene sequencing analysis of children born small for gestational age with isolated short stature
Multigene sequencing analysis of children born small for gestational age with isolated short stature
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Multigene sequencing analysis of children born small for gestational age with isolated short stature

Bruna L Freire Thais K Homma; Mariana F. A Funari; Antonio M Lerario; Gabriela A Vasques; Alexsandra C Malaquias; Ivo J. P Arnhold; Alexander Augusto de Lima Jorge

Journal of clinical endocrinology & metabolism v. 104, n. 6, p. 2023-2030, 2019

Washington 2019

Acesso online. A biblioteca também possui exemplares impressos.

5
Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
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Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency

Monica M Franca Xingfa Han; Mariana F. A Funari; Antonio M Lerario; Mirian Y Nishi; Eveline G. P Fontenele; Sorahia Domenice; Alexander Augusto de Lima Jorge; David Garcia-galiano; Berenice Bilharinho de Mendonça

Journal of clinical endocrinology & metabolism v. 104, n. 7, p. 2827-2841, 2019

Washington 2019

Acesso online. A biblioteca também possui exemplares impressos.

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Deste Autor:

  1. Funari, M
  2. Lerario, A
  3. Jorge, A
  4. Mendonça, B
  5. Fontenele, E

Neste Assunto:

  1. Sequenciamento Genético
  2. Estudos De Coortes
  3. Eletrocardiografia
  4. Estudos Longitudinais
  5. Ovário

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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