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Refinado por: Biblioteca: FM - Fac. Medicina remover assunto: Mutação Genética remover
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1
Study of bone mineral metabolism and bone mineral density in children with Laron syndrome: evidence for normal bone mineral accretion
Study of bone mineral metabolism and bone mineral density in children with Laron syndrome: evidence for normal bone mineral accretion
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Artigo de Congresso 		Adicionar ao Meu Espaço

Study of bone mineral metabolism and bone mineral density in children with Laron syndrome: evidence for normal bone mineral accretion

H. C. Menzes Filho D Damiani; A. A Jorge; V Dichtchekenian; T Della Manna; H Kuperman; N Setian; Annual Meeting of the Sociedad Latinoamericana de Endocrinologia Pediátrica (SLEP) (17. 2004 Angra dos Reis)

Journal of pediatric endocrinology and metabolism London v. 17, n. suppl.5, p. 1345, res. Poster 3, 2004

London 2004

Localização: FM - Fac. Medicina    (BCSEP 355 2004 ) e outros locais(Acessar)

2
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

Salmo Raskin Lilian Pereira Ferrari; Francisco Caldeira Reis; Fernando Abreu; Paulo Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwing; Lairton Valentin; Nelson Augusto Rosario Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip III; Ranajit Chakraborty

Journal of cystic fibrosis Amsterdam v. 7, n. 1, p. 15-22, 2008

Amsterdam 2008

Localização: FM - Fac. Medicina    (BCSEP 251 2008 )(Acessar)

3
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

Salmo Raskin Lilian Pereira Ferrari; Francisco Caldeira Reis; Fernando Abreu; Paulo Marostica; Tatiana Rozov; Joselina Cardieri; Norberto Ludwing; Lairton Valentin; Nelson Augusto Rosario Filho; Eurico Camargo Neto; Eduardo Lewis; Roberto Giugliani; Edna Maria Albuquerque Diniz; Lodercio Culpi; John Atlas Phillip III; Ranajit Chakraborty

Journal of cystic fibrosis Amsterdam v. 7, n. 1, p. 15-22, 2008

Amsterdam 2008

Localização: FM - Fac. Medicina    (BCSEP 251 2008 )(Acessar)

4
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3
Material Type:
Artigo 		Adicionar ao Meu Espaço

Central Precocious Puberty That Appears to Be Sporadic Caused by Paternally Inherited Mutations in the Imprinted Gene Makorin Ring Finger 3

Delanie B. Macedo Ana Paula Abreu; Ana Claudia S Reis; Luciana R Montenegro; Andrew Dauber; Daiane Beneduzzi; Priscilla Cukier; Leticia F. G Silveira; Milena G Teles; Rona S Carroll; Gil Guerra Junior; Guilherme Guaragna Filho; Zoran Gucev; Ivo J. P Arnhold; Margaret de Castro; Ayrton C Moreira; Carlos Eduardo Martinelli Jr.; Joel N Hirschhorn; Berenice B Mendonca; Vinicius N Brito; Sonir R Antonini; Ursula B Kaiser; Ana Claudia Latronico

Journal of Clinical Endocrinology and Metabolism Springfield v. 99, n. 6, p. E1097-E1103, 2014

Springfield 2014

Localização: FM - Fac. Medicina    (BCSEP 023 2014 ) e outros locais(Acessar)

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Deste Autor:

  1. Reis, F
  2. Ferrari, L
  3. Diniz, E
  4. Phillip III, J
  5. Culpi, L

Neste Assunto:

  1. BRASIL
  2. Recém-Nascidos
  3. Crianças
  4. Rastreamento
  5. Pacientes

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

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