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The Sage handbook of intercultural competence
The Sage handbook of intercultural competence
Material Type:
Livro 		Adicionar ao Meu Espaço

The Sage handbook of intercultural competence

Darla K Deardorff

Thousand Oaks, Calif. Sage Publications c2009

Localização: FEA - Fac. Econ. Adm. Contab. e Atuária    (303.482 S129 )(Acessar)

2
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Material Type:
Artigo 		Adicionar ao Meu Espaço

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Kline, Antonie D ; Moss, Joanna F ; Selicorni, Angelo ; Bisgaard, Anne-Marie ; Deardorff, Matthew A ; Gillett, Peter M ; Ishman, Stacey L ; Kerr, Lynne M ; Levin, Alex V ; Mulder, Paul A ; Ramos, Feliciano J ; Wierzba, Jolanta ; Ajmone, Paola Francesca ; Axtell, David ; Blagowidow, Natalie ; Cereda, Anna ; Costantino, Antonella ; Cormier-Daire, Valerie ; FitzPatrick, David ; Grados, Marco ; Groves, Laura ; Guthrie, Whitney ; Huisman, Sylvia ; Kaiser, Frank J ; Koekkoek, Gerritjan ; Levis, Mary ; Mariani, Milena ; McCleery, Joseph P ; Menke, Leonie A ; Metrena, Amy ; O'Connor, Julia ; Oliver, Chris ; Pie, Juan ; Piening, Sigrid ; Potter, Carol J ; Quaglio, Ana L ; Redeker, Egbert ; Richman, David ; Rigamonti, Claudia ; Shi, Angell ; Tümer, Zeynep ; Van Balkom, Ingrid D C ; Hennekam, Raoul C

Nature reviews. Genetics, 2018-10, Vol.19 (10), p.649-666 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
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Artigo 		Adicionar ao Meu Espaço

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Loges, Niki T. ; Antony, Dinu ; Maver, Ales ; Deardorff, Matthew A. ; Güleç, Elif Yýlmaz ; Gezdirici, Alper ; Nöthe-Menchen, Tabea ; Höben, Inga M. ; Jelten, Lena ; Frank, Diana ; Werner, Claudius ; Tebbe, Johannes ; Wu, Kaman ; Goldmuntz, Elizabeth ; Čuturilo, Goran ; Krock, Bryan ; Ritter, Alyssa ; Hjeij, Rim ; Bakey, Zeineb ; Pennekamp, Petra ; Dworniczak, Bernd ; Brunner, Han ; Peterlin, Borut ; Tanidir, Cansaran ; Olbrich, Heike ; Omran, Heymut ; Schmidts, Miriam

American journal of human genetics, 2018-12, Vol.103 (6), p.995-1008 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
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Artigo 		Adicionar ao Meu Espaço

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

Conlin, Laura K. ; Thiel, Brian D. ; Bonnemann, Carsten G. ; Medne, Livija ; Ernst, Linda M. ; Zackai, Elaine H. ; Deardorff, Matthew A. ; Krantz, Ian D. ; Hakonarson, Hakon ; Spinner, Nancy B.

Human molecular genetics, 2010-04, Vol.19 (7), p.1263-1275 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management
Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management
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Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management

Duffy, Kelly A. ; Cielo, Christopher M. ; Cohen, Jennifer L. ; Gonzalez‐Gandolfi, Christina X. ; Griff, Jessica R. ; Hathaway, Evan R. ; Kupa, Jonida ; Taylor, Jesse A. ; Wang, Kathleen H. ; Ganguly, Arupa ; Deardorff, Matthew A. ; Kalish, Jennifer M.

American journal of medical genetics. Part C, Seminars in medical genetics, 2019-12, Vol.181 (4), p.693-708

Hoboken, USA: John Wiley & Sons, Inc

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6
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders
Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders
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Artigo 		Adicionar ao Meu Espaço

Structural aspects of HDAC8 mechanism and dysfunction in Cornelia de Lange syndrome spectrum disorders

Deardorff, Matthew A. ; Porter, Nicholas J. ; Christianson, David W.

Protein science, 2016-11, Vol.25 (11), p.1965-1976 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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7
Transcriptional dysregulation in NIPBL and cohesin mutant human cells
Transcriptional dysregulation in NIPBL and cohesin mutant human cells
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Transcriptional dysregulation in NIPBL and cohesin mutant human cells

Liu, Jinglan ; Zhang, Zhe ; Bando, Masashige ; Itoh, Takehiko ; Deardorff, Matthew A ; Clark, Dinah ; Kaur, Maninder ; Tandy, Stephany ; Kondoh, Tatsuro ; Rappaport, Eric ; Spinner, Nancy B ; Vega, Hugo ; Jackson, Laird G ; Shirahige, Katsuhiko ; Krantz, Ian D Hastie, Nicholas

PLoS biology, 2009-05, Vol.7 (5), p.e1000119-e1000119 [Periódico revisado por pares]

United States: Public Library of Science

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8
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Izumi, Kosuke ; Nakato, Ryuichiro ; Zhang, Zhe ; Edmondson, Andrew C ; Noon, Sarah ; Dulik, Matthew C ; Rajagopalan, Ramakrishnan ; Venditti, Charles P ; Gripp, Karen ; Samanich, Joy ; Zackai, Elaine H ; Deardorff, Matthew A ; Clark, Dinah ; Allen, Julian L ; Dorsett, Dale ; Misulovin, Ziva ; Komata, Makiko ; Bando, Masashige ; Kaur, Maninder ; Katou, Yuki ; Shirahige, Katsuhiko ; Krantz, Ian D

Nature genetics, 2015-04, Vol.47 (4), p.338-344 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome
Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome
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Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome

Vergano, Samantha S. ; Deardorff, Matthew A.

American journal of medical genetics. Part C, Seminars in medical genetics, 2014-09, Vol.166C (3), p.252-256

United States: Blackwell Publishing Ltd

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10
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
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Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Parenti, Ilaria ; Teresa-Rodrigo, María E. ; Pozojevic, Jelena ; Ruiz Gil, Sara ; Bader, Ingrid ; Braunholz, Diana ; Bramswig, Nuria C. ; Gervasini, Cristina ; Larizza, Lidia ; Pfeiffer, Lutz ; Ozkinay, Ferda ; Ramos, Feliciano ; Reiz, Benedikt ; Rittinger, Olaf ; Strom, Tim M. ; Watrin, Erwan ; Wendt, Kerstin ; Wieczorek, Dagmar ; Wollnik, Bernd ; Baquero-Montoya, Carolina ; Pié, Juan ; Deardorff, Matthew A. ; Gillessen-Kaesbach, Gabriele ; Kaiser, Frank J.

Human genetics, 2017-03, Vol.136 (3), p.307-320 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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Deste Autor:

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