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1
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Matthew A. Lines Lijia Huang; Jeremy Schwartzentruber; Stuart L Douglas; Danielle C Lynch; Chandree Beaulieu; Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Blanca Gener; Gabriele Gillessen-Kaesbach; Caroline Nava; Geneviève Baujat; Denise Horn; Usha Kini; Almuth Caliebe; Yasemin Alanay; Gulen Eda Utine; Dorit Lev; Jürgen Kohlhase; Arthur W Grix; Dietmar R Lohmann; Ute Hehr; Detlef Böhm FORGE Canada Consortium; Jacek Majewski; Dennis E Bulman; Dagmar Wieczorek; Kym M Boycott

The American Journal of Human Genetics Chicago v. 90, n. 2, p. 369-377, Feb. 2012

Chicago 2012

Acesso online

2
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Matthew A. Lines Lijia Huang; Jeremy Schwartzentruber; Stuart L Douglas; Danielle C Lynch; Chandree Beaulieu; Maria Leine Guion-Almeida; Roseli Maria Zechi-Ceide; Blanca Gener; Gabriele Gillessen-Kaesbach; Caroline Nava; Geneviève Baujat; Denise Horn; Usha Kini; Almuth Caliebe; Yasemin Alanay; Gulen Eda Utine; Dorit Lev; Jürgen Kohlhase; Arthur W Grix; Dietmar R Lohmann; Ute Hehr; Detlef Böhm FORGE Canada Consortium; Jacek Majewski; Dennis E Bulman; Dagmar Wieczorek; Kym M Boycott

The American Journal of Human Genetics Chicago v. 90, n. 2, p. 369-377, Feb. 2012

Chicago 2012

Acesso online

3
Pathological evaluation and reporting of intraductal papillary mucinous neoplasms of the pancreas the correlation and analyzes of the hispathotologic patterns
Pathological evaluation and reporting of intraductal papillary mucinous neoplasms of the pancreas the correlation and analyzes of the hispathotologic patterns
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Pathological evaluation and reporting of intraductal papillary mucinous neoplasms of the pancreas the correlation and analyzes of the hispathotologic patterns

Carolin D. Nava Renata Coudry; Marcel C. C Machado; Luciana Meirelles; Marianne de Castro Gonçalves; Gabriela F Paduani; João Guilherme G Cabral; Luciano D Hybner; Jose Celso Ardengh; 2017 DDW abstracts (2017 Chicago)

Gastroenterology Baltimore v. 152, n. 5, suppl. 1, p. S-675, abst. Mo 1313, 2017

Baltimore 2017

Localização: FM - Fac. Medicina    (BCSEP 331/2017 )(Acessar)

4
Resectable Pancreatic Neuroendocrine Neoplasms Clinicopathological Characteristics and Immunohistochemical Correlation
Resectable Pancreatic Neuroendocrine Neoplasms Clinicopathological Characteristics and Immunohistochemical Correlation
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

Resectable Pancreatic Neuroendocrine Neoplasms Clinicopathological Characteristics and Immunohistochemical Correlation

Carolin D. Nava Renata Coudry; Marcel C. C Machado; Luciana Meirelles; Marianne de Castro Gonçalves; Gabriela F Paduani; João Guilherme G Cabral; Luciano D Hybner; Jose Celso Ardengh; 2017 DDW abstracts (2017 Chicago)

Gastroenterology Baltimore v. 152, n. 5, suppl. 1, p. S-898, abst. Tu1370, 2017

Baltimore 2017

Localização: FM - Fac. Medicina    (BCSEP 331/2017 )(Acessar)

5
A new algorithm proposed to perform the EUS-guided biliary drainage after endoscopic retrograde cholangiopancreatography fail
A new algorithm proposed to perform the EUS-guided biliary drainage after endoscopic retrograde cholangiopancreatography fail
Material Type:
Artigo de Congresso 		Adicionar ao Meu Espaço

A new algorithm proposed to perform the EUS-guided biliary drainage after endoscopic retrograde cholangiopancreatography fail

Gabriela F. Paduani Rafael Kemp; José Sebastião dos Santos; Davi Casale Aragon; João Guilherme G Cabral; Carolin D Nava; Luciano D Hybner; José Celso Ardengh; Digestive Disease Week (2017 Chicago)

Abstracts Chicago, 2017

Chicago 2017

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2922107 Estantes Deslizantes )(Acessar)

6
Capturing the Friedmans Na captura dos Friedmans
Capturing the Friedmans Na captura dos Friedmans
Material Type:
Vídeo 		Adicionar ao Meu Espaço

Capturing the Friedmans Na captura dos Friedmans

Andrew Jarecki; Marc Smerling; Tanya Barr; Jose A Barrios; Alex Carone; Rafael Estrella; Caroline Findlay; Cristopher J Grunke; Thom Little; Adolfo Doring; Richard Hankin; Marlena Grzaslewicz; Ira Spiegel; John Gurrin; Nava Lubelski; Andrea Morricone; Steve Chiarello; Kevin Quinlan; Marc Szumski; John Zawisha; Tim Spitzer; Arnold Friedman; Elaine Friedman; David Friedman; Seth Friedman; Jesse Friedman; Howard Friedman; HBO Documentary Films; Magnolia Pictures

Estados Unidos HBO Documentary Films produção Magnolia Pictures produção São Paulo Alpha Filmes distribuição 2003 200-

Localização: ECA - Escola de Comunicações e Artes    (DV0712 )(Acessar)

7
Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control
Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control
Material Type:
Artigo 		Adicionar ao Meu Espaço

Stamping method based on 3D printing and disposable napkin: Cheap production of paper analytical devices for alcohol determination in beverages aiming forensics and food control

Caroline Nava Pinheiro, Amanda ; Souza Ferreira, Valdir ; Gabriel Lucca, Bruno

Microchemical journal, 2022-09, Vol.180, p.107604, Article 107604 [Periódico revisado por pares]

Elsevier B.V

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8
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Material Type:
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Nava, Caroline ; Dalle, Carine ; Rastetter, Agnès ; Striano, Pasquale ; de Kovel, Carolien G F ; Nabbout, Rima ; Cancès, Claude ; Ville, Dorothée ; Brilstra, Eva H ; Gobbi, Giuseppe ; Raffo, Emmanuel ; Bouteiller, Delphine ; Marie, Yannick ; Trouillard, Oriane ; Robbiano, Angela ; Keren, Boris ; Agher, Dahbia ; Roze, Emmanuel ; Lesage, Suzanne ; Nicolas, Aude ; Brice, Alexis ; Baulac, Michel ; Vogt, Cornelia ; El Hajj, Nady ; Schneider, Eberhard ; Suls, Arvid ; Weckhuysen, Sarah ; Gormley, Padhraig ; Lehesjoki, Anna-Elina ; De Jonghe, Peter ; Helbig, Ingo ; Baulac, Stéphanie ; Zara, Federico ; Koeleman, Bobby P C ; Haaf, Thomas ; LeGuern, Eric ; Depienne, Christel

Nature genetics, 2014-06, Vol.46 (6), p.640-645 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
Material Type:
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, Elsa ; Schröder, Christopher ; Parenti, Ilaria ; Dalle, Carine ; Rastetter, Agnès ; Kühnel, Theresa ; Kuechler, Alma ; Kaya, Sabine ; Gérard, Bénédicte ; Schaefer, Elise ; Nava, Caroline ; Drouot, Nathalie ; Engel, Camille ; Piard, Juliette ; Duban-Bedu, Bénédicte ; Villard, Laurent ; Stegmann, Alexander P A ; Vanhoutte, Els K ; Verdonschot, Job A J ; Kaiser, Frank J ; Tran Mau-Them, Frédéric ; Scala, Marcello ; Striano, Pasquale ; Frints, Suzanna G M ; Argilli, Emanuela ; Sherr, Elliott H ; Elder, Fikret ; Buratti, Julien ; Keren, Boris ; Mignot, Cyril ; Héron, Delphine ; Mandel, Jean-Louis ; Gecz, Jozef ; Kalscheuer, Vera M ; Horsthemke, Bernhard ; Piton, Amélie ; Depienne, Christel

Nature communications, 2022-11, Vol.13 (1), p.6570-6570, Article 6570 [Periódico revisado por pares]

England: Nature Publishing Group

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10
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
Material Type:
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Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

Asselin, Laure ; Rivera Alvarez, José ; Heide, Solveig ; Bonnet, Camille S ; Tilly, Peggy ; Vitet, Hélène ; Weber, Chantal ; Bacino, Carlos A ; Baranaño, Kristin ; Chassevent, Anna ; Dameron, Amy ; Faivre, Laurence ; Hanchard, Neil A ; Mahida, Sonal ; McWalter, Kirsty ; Mignot, Cyril ; Nava, Caroline ; Rastetter, Agnès ; Streff, Haley ; Thauvin-Robinet, Christel ; Weiss, Marjan M ; Zapata, Gladys ; Zwijnenburg, Petra J G ; Saudou, Frédéric ; Depienne, Christel ; Golzio, Christelle ; Héron, Delphine ; Godin, Juliette D

Nature communications, 2020-05, Vol.11 (1), p.2441-2441, Article 2441 [Periódico revisado por pares]

England: Nature Publishing Group

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Deste Autor:

  1. Nava, C
  2. Paduani, G
  3. Ardengh, J
  4. Cabral, J
  5. Hybner, L

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Life Sciences
  5. Female

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

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