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11
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
Material Type:
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Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy

Luciana Midori Inuzuka Lucia Ines Macedo-souza; Bruno Della-ripa; Fabiola Paoli Monteiro; Luiza Ramos; Joao Paulo Kitajima; Eliana Garzon; Fernando Kok

Brain & development v. 42, n. 9, p. 691-695, 2020

Amsterdam 2020

Acesso online. A biblioteca também possui exemplares impressos.

12
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
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Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family

Thalita Figueiredo Uirá Souto Melo; André Luiz Santos Pessoa; Paulo Ribeiro Nobrega; João Paulo Kitajima; Igor Correa; Mayana Zatz; Fernando Kok; Silvana Santos

Journal of Medical Genetics London v. 52, n. 2, p. 123-127, Feb. 2015

London 2015

Item não circula. Consulte sua biblioteca.(Acessar)

13
Comparative genomic analysis of plant-associated bacteria
Comparative genomic analysis of plant-associated bacteria
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Comparative genomic analysis of plant-associated bacteria

Marie-Anne Van Sluys Claudia Barros Monteiro-Vitorello; Luís Eduardo Aranha Camargo; Carlos Frederico Martins Menck; Ana Claudia Rasera da Silva; J. A Ferro; Mariana C Oliveira; João Carlos Setubal; João Paulo Kitajima; A J Simpson

Annual Review of Phytopathology Lawrence v. 40, p. 169-189, 2002

Lawrence 2002

Localização: ICB - Inst. Ciências Biomédicas    (PC-ICB BMM SEP 2002 )(Acessar)

14
The complete mitochondrial genome of Bothrops jararaca (Reptilia, Serpentes, Viperidae)
The complete mitochondrial genome of Bothrops jararaca (Reptilia, Serpentes, Viperidae)
Material Type:
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The complete mitochondrial genome of Bothrops jararaca (Reptilia, Serpentes, Viperidae)

Diego Dantas Almeida João Paulo Kitajima; Milton Yutaka Nishiyama Junior; George Willian Condomitti; Ursula Castro de Oliveira; João Carlos Setubal; Inácio de Loiola Meirelles Junqueira de Azevedo

Mitochondrial DNA Part B: Resources Oxon v. 1, n. 1, p. 907-908, 2016

Oxford 2016

Item não circula. Consulte sua biblioteca.(Acessar)

15
Comparative genomic analysis of plant-associated bacteria
Comparative genomic analysis of plant-associated bacteria
Material Type:
Artigo 		Adicionar ao Meu Espaço

Comparative genomic analysis of plant-associated bacteria

Marie-Anne Van Sluys Claudia Barros Monteiro-Vitorello; Luís Eduardo Aranha Camargo; Carlos Frederico Martins Menck; Ana Claudia Rasera da Silva; J. A Ferro; Mariana Cabral de Oliveira; João Carlos Setubal; João Paulo Kitajima; A J Simpson

Annual Review of Phytopathology Lawrence v. 40, p. 169-189, 2002

Lawrence 2002

Localização: ICB - Inst. Ciências Biomédicas    (PC-ICB BMM SEP 2002 )(Acessar)

16
Combinatory microarray and superSAGE analyses identify pairing-dependently transcribed genes in schistosoma mansoni males, including follistatin
Combinatory microarray and superSAGE analyses identify pairing-dependently transcribed genes in schistosoma mansoni males, including follistatin
Material Type:
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Combinatory microarray and superSAGE analyses identify pairing-dependently transcribed genes in schistosoma mansoni males, including follistatin

Silke Leutner Kátia Cristina de Oliveira; Bjorn Rotter; Svenja Beckmann; Christin Buro; Steffen Hahnel; João Paulo Kitajima; Sergio Verjovski-Almeida; Peter Winter; Christoph G Grevelding

Plos Neglected Tropical Diseases San Francisco v. 7, n. 11, p. 1-17, art. e2532, 2013

San Francisco 2013

Item não circula. Consulte sua biblioteca.(Acessar)

17
Integrative variation analysis reveals that a complex genotype may specify phenotype in siblings with Syndromic Autism Spectrum Disorder
Integrative variation analysis reveals that a complex genotype may specify phenotype in siblings with Syndromic Autism Spectrum Disorder
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Integrative variation analysis reveals that a complex genotype may specify phenotype in siblings with Syndromic Autism Spectrum Disorder

Viviane Neri de Souza Reis João Paulo Kitajima; Ana Carolina Tahira; Ana Cecília Feio-dos-Santos; Rodrigo Ambrosio Fock; Bianca Cristina Garcia Lisboa; Sérgio Nery Simões; Ana Cristina Victorino Krepischi; Carla Rosenberg; Naila Cristina Lourenço; Maria Rita Passos-Bueno; Helena Brentani

PLoS ONE San Francisco v. 12, n. 1, e0170386, p. 1-22, Jan. 2017

San Francisco 2017

Item não circula. Consulte sua biblioteca.(Acessar)

18
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
Material Type:
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations

Fabiola P Monteiro Cynthia J Curry; Robert Hevner; Stephen Elliott; Jamie H Fisher; John Turocy; William B Dobyns; Larissa A Costa; Erika Freitas; Joao Paulo Kitajima; Fernando Kok

European journal of medical genetics v. 63, n. 1, article ID 103624, 8p, 2020

Amsterdam 2020

Acesso online. A biblioteca também possui exemplares impressos.

19
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants two new cases and review of the literature
Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants two new cases and review of the literature
Material Type:
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Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants two new cases and review of the literature

Luciana Midori Inuzuka Lucia Ines Macedo-souza; Bruno Della-ripa; Katiane S. S Cabral; Fabiola Monteiro; Joao Paulo Kitajima; Luis Filipe de Souza Godoy; Daniel de Souza Delgado; Fernando Kok; Eliana Garzon

Brain & development v. 42, n. 2, p. 211-216, 2020

Amsterdam 2020

Acesso online. A biblioteca também possui exemplares impressos.

20
ORESTES are enriched in rare exon variants affecting the encoded proteins
ORESTES are enriched in rare exon variants affecting the encoded proteins
Material Type:
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ORESTES are enriched in rare exon variants affecting the encoded proteins

Noboru Jo Sakabe Jorge E. S. de Souza; Pedro F. A Galante; Paulo S. L Oliveira; Fábio Passett; Helena Brentani; Elisson C Osório; André C Zaiats; Maarten R Leerkers; João Paulo Kitajima; Ricardo R Brentani; Robert L Strausberg; Andrew J. G Simpson; Sandro José de Souza

Comptes Rendus Biologies. Paris v. 3, n. 3, p. 1-7, 2003

Paris 2003

Localização: FM - Fac. Medicina    (BCSEP 2003 178 )(Acessar)

Resultados de 11 a 20 de 53  para Produção Intelectual da USP

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Deste Autor:

  1. Kitajima, J
  2. Oliveira, M
  3. Setubal, J
  4. Van Sluys, M
  5. Monteiro-Vitorello, C

Neste Assunto:

  1. Genomas
  2. Citricultura
  3. Sequenciamento Genético
  4. Leprose
  5. Rhodophyta

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

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