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Refinado por: assunto: Mutação Genética remover
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1
Lipoid proteinosis Rare case confirmed by ECM1 mutation detection
Lipoid proteinosis Rare case confirmed by ECM1 mutation detection
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Artigo 		Adicionar ao Meu Espaço

Lipoid proteinosis Rare case confirmed by ECM1 mutation detection

Tatiana F. Almeida Diogo C Soares; Caio R Quaio; Rachel S Honjo; Debora R Bertola; John A McGrath; Chong A Kim

International Journal of Pediatric Otorhinolaryngology Amsterdan v. 78, p. 2314-2315, 2014

Amsterdan 2014

Acesso online. A biblioteca também possui exemplares impressos.

2
Santos syndrome is caused by mutation in the WNT7A gene
Santos syndrome is caused by mutation in the WNT7A gene
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Santos syndrome is caused by mutation in the WNT7A gene

Leandro U. Alves Silvana Santos; Camila M Musso; Suzana A. M Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina Celia Mingroni Netto

Journal of human genetics v. 62, n. 12, p. 1073-1078, 2017

New York 2017

Acesso online. A biblioteca também possui exemplares impressos.

3
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila
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Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila

Angelina Palacios-Muñoz Danielle de Paula Moreira; Valeria Silva; Isaac E García; Francisco Aboitiz; Mehdi Zarrei; Gabriele Campos; Olivia Rennie; Jennifer L Howe; Evdokia Anagnostou; Patricia Ambrozewic; Stephen W Scherer; Maria Rita Passos-Bueno; John Ewer

Molecular Psychiatry London on-line, 2022

London 2022

Item não circula. Consulte sua biblioteca.(Acessar)

4
Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination
Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination
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Novel MKRN3 missense mutations associated with central precocious puberty reveal distinct effects on ubiquitination

John C Magnotto Alessandra Mancini; Keisha Bird; Luciana Montenegro; Filiz Tutunculer; Sidney A Pereira; Vitoria Simas; Leonardo Garcia; Stephanie A Roberts; Ana Claudia Latronico Xavier

Journal of clinical endocrinology & metabolism v. 108, n. 7, p. 1646-1656, 2023

Washington 2023

Acesso online. A biblioteca também possui exemplares impressos.

5
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations
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Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations

Alexander Sonne Anna Katarina Antonovic; Elise Melhedegaard; Fariha Akter; Jesper L Andersen; Heinz Jungbluth; Nanna Witting; John Vissing; Edmar Zanoteli; Arianna Fornili; Julien Ochala

Acta physiologica v. 239, n. 2, 2023

Hoboken 2023

Acesso online. A biblioteca também possui exemplares impressos.

6
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
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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)

7
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)

8
Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients
Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients
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Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patients

Aline Z. Machado Mariza G Santos; Sorahia Domenice; Valeria S Lando; Maria P Brandao; Miriam N Nishi; Elaine E. M. F Costa; Bruno Ferraz-de-Souza; John C Achermann; Lin Lin; Berenice B Mendonça; Annual meeting of the European Society for Pediatric Endocrinology (ESPE) 2010 Prague) (49.

Hormone Research in Paediatrics Basel v. 74, n. suppl. 3, p. 113, res. P1-d3.369, 2010

Basel 2010

Localização: FM - Fac. Medicina    (BCSEP 311 2010 )(Acessar)

9
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood
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TAC3/TACR3 Mutations Reveal Preferential Activation of Gonadotropin-Releasing Hormone Release by Neurokinin B in Neonatal Life Followed by Reversal in Adulthood

Elena Gianetti Cintia Tusset; Sekoni D Noel; Margaret G Au; Andrew A Dwyer; Virginia A Hughes; Ana Paula Abreu; Jessica Carroll; Ericka Trarbach; Leticia F. G Silveira; Elaine M. F Costa; Berenice Bilharinho de Mendonça; Margaret de Castro; Adriana Lofrano; Janet E Hall; Erol Bolu; Metin Ozata; Richard Quinton; John K Amory; Susan E Stewart; Wiebke Arlt; Trevor R Cole; William F Crowley; Ursula B Kaiser; Ana Claudia Latronico; Stephanie B Seminara

Journal of Clinical Endocrinology and Metabolism Philadelphia v. 95, n. 5, p. 2857-2867, 2010

Philadelphia 2010

Acesso online. A biblioteca também possui exemplares impressos.

10
Familial hypercholesterolaemia in children and adolescents gaining decades of life by optimizing detection and treatment
Familial hypercholesterolaemia in children and adolescents gaining decades of life by optimizing detection and treatment
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Familial hypercholesterolaemia in children and adolescents gaining decades of life by optimizing detection and treatment

Albert Wiegman Samuel S Gidding; Gerald F Watts; M. John Chapman; Henry N Ginsberg; Marina Cuchel; Leiv Ose; Maurizio Averna; Catherine Boileau; Jan Borén; Eric Bruckert; Alberico L Catapano; Joep C Defesche; Olivier S Descamps; Robert A Hegele; G. Kees Hovingh; Steve E Humphries; Petri T Kovanen; Jan Albert Kuivenhoven; Luis Masana; Børge G Nordestgaard; Päivi Pajukanta; Klaus G Parhofer; Frederick J Raal; Kausik K Ray; Raul D Santos; Anton F. H Stalenhoef; Elisabeth Steinhagen-Thiessen; Erik S Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen; Olov Wiklund

European heart journal London v. 36, p. 2425-2437, 2015

London 2015

Localização: FM - Fac. Medicina    (BCSEP 096 2015 )(Acessar)

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Deste Autor:

  1. Latronico, A
  2. Noel, S
  3. Mendonça, B
  4. Abreu, A
  5. Costa, E

Neste Assunto:

  1. Fenótipos
  2. Gonadotrofinas (Metabolismo)
  3. Genes (Análise)
  4. Recém-Nascidos
  5. Puberdade Precoce

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

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