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1
Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis
Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis
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Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

McKerrell, Thomas ; Park, Naomi ; Moreno, Thaidy ; Grove, Carolyn S. ; Ponstingl, Hannes ; Stephens, Jonathan ; Crawley, Charles ; Craig, Jenny ; Scott, Mike A. ; Hodkinson, Clare ; Baxter, Joanna ; Rad, Roland ; Forsyth, Duncan R. ; Quail, Michael A. ; Zeggini, Eleftheria ; Ouwehand, Willem ; Varela, Ignacio ; Vassiliou, George S.

Cell reports (Cambridge), 2015-03, Vol.10 (8), p.1239-1245 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Lentaigne, Claire ; Greene, Daniel ; Sivapalaratnam, Suthesh ; Favier, Remi ; Seyres, Denis ; Thys, Chantal ; Grassi, Luigi ; Mangles, Sarah ; Sibson, Keith ; Stubbs, Matthew ; Burden, Frances ; Bordet, Jean-Claude ; Armari-Alla, Corinne ; Erber, Wendy ; Farrow, Samantha ; Gleadall, Nicholas ; Gomez, Keith ; Megy, Karyn ; Papadia, Sofia ; Penkett, Christopher J. ; Sims, Matthew C. ; Stefanucci, Luca ; Stephens, Jonathan C. ; Read, Randy J. ; Stirrups, Kathleen E. ; Ouwehand, Willem H. ; Laffan, Michael A. ; Frontini, Mattia ; Freson, Kathleen ; Turro, Ernest

Blood, 2019-12, Vol.134 (23), p.2070-2081 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Shovlin, Claire L. ; Simeoni, Ilenia ; Downes, Kate ; Frazer, Zoe C. ; Megy, Karyn ; Bernabeu-Herrero, Maria E. ; Shurr, Abigail ; Brimley, Jennifer ; Patel, Dilipkumar ; Kell, Loren ; Stephens, Jonathan ; Turbin, Isobel G. ; Aldred, Micheala A. ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Jovine, Luca ; Turro, Ernest

Blood, 2020-10, Vol.136 (17), p.1907-1918 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia
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Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

Sivapalaratnam, Suthesh ; Westbury, Sarah K. ; Stephens, Jonathan C. ; Greene, Daniel ; Downes, Kate ; Kelly, Anne M. ; Lentaigne, Claire ; Astle, William J. ; Huizinga, Eric G. ; Nurden, Paquita ; Papadia, Sofia ; Peerlinck, Kathelijne ; Penkett, Christopher J. ; Perry, David J. ; Roughley, Catherine ; Simeoni, Ilenia ; Stirrups, Kathleen ; Hart, Daniel P. ; Tait, R.Campbell ; Mumford, Andrew D. ; Laffan, Michael A. ; Freson, Kathleen ; Ouwehand, Willem H. ; Kunishima, Shinji ; Turro, Ernest

Blood, 2017-01, Vol.129 (4), p.520-524 [Periódico revisado por pares]

United States: Elsevier Inc

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5
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease
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ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

Staples, Emily ; Simeoni, Ilenia ; Stephens, Jonathan C. ; Allen, Hana Lango ; Wright, Penny ; Davies, E. Graham ; Javid, Babak ; Gkrania-Klotsas, Effrossyni ; Gattens, Michael ; Firth, Helen ; Shamardina, Olga ; Deevi, Sri V.V. ; Prapa, Matina ; Uttenthal, Ben ; Kumararatne, Dinakantha ; Thaventhiran, James E.D.

Clinical immunology (Orlando, Fla.), 2020-06, Vol.215, p.108443, Article 108443 [Periódico revisado por pares]

United States: Elsevier Inc

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6
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Stritt, Simon ; Nurden, Paquita ; Turro, Ernest ; Greene, Daniel ; Jansen, Sjoert B. ; Westbury, Sarah K. ; Petersen, Romina ; Astle, William J. ; Marlin, Sandrine ; Bariana, Tadbir K. ; Kostadima, Myrto ; Lentaigne, Claire ; Maiwald, Stephanie ; Papadia, Sofia ; Kelly, Anne M. ; Stephens, Jonathan C. ; Penkett, Christopher J. ; Ashford, Sofie ; Tuna, Salih ; Austin, Steve ; Bakchoul, Tamam ; Collins, Peter ; Favier, Rémi ; Lambert, Michele P. ; Mathias, Mary ; Millar, Carolyn M. ; Mapeta, Rutendo ; Perry, David J. ; Schulman, Sol ; Simeoni, Ilenia ; Thys, Chantal ; Gomez, Keith ; Erber, Wendy N. ; Stirrups, Kathleen ; Rendon, Augusto ; Bradley, John R. ; van Geet, Chris ; Raymond, F.Lucy ; Laffan, Michael A. ; Nurden, Alan T. ; Nieswandt, Bernhard ; Richardson, Sylvia ; Freson, Kathleen ; Ouwehand, Willem H. ; Mumford, Andrew D.

Blood, 2016-06, Vol.127 (23), p.2903-2914 [Periódico revisado por pares]

United States: Elsevier Inc

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7
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders
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A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Simeoni, Ilenia ; Stephens, Jonathan C. ; Hu, Fengyuan ; Deevi, Sri V.V. ; Megy, Karyn ; Bariana, Tadbir K. ; Lentaigne, Claire ; Schulman, Sol ; Sivapalaratnam, Suthesh ; Vries, Minka J.A. ; Westbury, Sarah K. ; Greene, Daniel ; Papadia, Sofia ; Alessi, Marie-Christine ; Attwood, Antony P. ; Ballmaier, Matthias ; Baynam, Gareth ; Bermejo, Emilse ; Bertoli, Marta ; Bray, Paul F. ; Bury, Loredana ; Cattaneo, Marco ; Collins, Peter ; Daugherty, Louise C. ; Favier, Rémi ; French, Deborah L. ; Furie, Bruce ; Gattens, Michael ; Germeshausen, Manuela ; Ghevaert, Cedric ; Goodeve, Anne C. ; Guerrero, Jose A. ; Hampshire, Daniel J. ; Hart, Daniel P. ; Heemskerk, Johan W.M. ; Henskens, Yvonne M.C. ; Hill, Marian ; Hogg, Nancy ; Jolley, Jennifer D. ; Kahr, Walter H. ; Kelly, Anne M. ; Kerr, Ron ; Kostadima, Myrto ; Kunishima, Shinji ; Lambert, Michele P. ; Liesner, Ri ; López, José A. ; Mapeta, Rutendo P. ; Mathias, Mary ; Millar, Carolyn M. ; Nathwani, Amit ; Neerman-Arbez, Marguerite ; Nurden, Alan T. ; Nurden, Paquita ; Othman, Maha ; Peerlinck, Kathelijne ; Perry, David J. ; Poudel, Pawan ; Reitsma, Pieter ; Rondina, Matthew T. ; Smethurst, Peter A. ; Stevenson, William ; Szkotak, Artur ; Tuna, Salih ; van Geet, Christel ; Whitehorn, Deborah ; Wilcox, David A. ; Zhang, Bin ; Revel-Vilk, Shoshana ; Gresele, Paolo ; Bellissimo, Daniel B. ; Penkett, Christopher J. ; Laffan, Michael A. ; Mumford, Andrew D. ; Rendon, Augusto ; Gomez, Keith ; Freson, Kathleen ; Ouwehand, Willem H. ; Turro, Ernest

Blood, 2016-06, Vol.127 (23), p.2791-2803 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Limited jaw opening
Limited jaw opening
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Limited jaw opening

Ringler, Doron, DMD, MD ; Stephens, Jonathan, DDS, MD ; Levine, George, BA ; Eisig, Sidney B., DDS

The Journal of the American Dental Association (1939), 2014-05, Vol.145 (5), p.472-475 [Periódico revisado por pares]

England: Elsevier Inc

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9
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Downes, Kate ; Megy, Karyn ; Duarte, Daniel ; Vries, Minka ; Gebhart, Johanna ; Hofer, Stefanie ; Shamardina, Olga ; Deevi, Sri V.V. ; Stephens, Jonathan ; Mapeta, Rutendo ; Tuna, Salih ; Al Hasso, Namir ; Besser, Martin W. ; Cooper, Nichola ; Daugherty, Louise ; Gleadall, Nick ; Greene, Daniel ; Haimel, Matthias ; Martin, Howard ; Papadia, Sofia ; Revel-Vilk, Shoshana ; Sivapalaratnam, Suthesh ; Symington, Emily ; Thomas, Will ; Thys, Chantal ; Tolios, Alexander ; Penkett, Christopher J. ; Ouwehand, Willem H. ; Abbs, Stephen ; Laffan, Michael A. ; Turro, Ernest ; Simeoni, Ilenia ; Mumford, Andrew D. ; Henskens, Yvonne M.C. ; Pabinger, Ingrid ; Gomez, Keith ; Freson, Kathleen

Blood, 2019-12, Vol.134 (23), p.2082-2091 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, Alba ; Megy, Karyn ; Stephens, Jonathan ; Armirola Ricaurte, Camila ; Dewhurst, Eleanor ; Low, Kayyi ; French, Courtney E. ; Grozeva, Detelina ; Stirrups, Kathleen ; Erwood, Marie ; McTague, Amy ; Penkett, Christopher J. ; Shamardina, Olga ; Tuna, Salih ; Daugherty, Louise C. ; Gleadall, Nicholas ; Duarte, Sofia T. ; Hedrera-Fernández, Antonio ; Vogt, Julie ; Ambegaonkar, Gautam ; Chitre, Manali ; Josifova, Dragana ; Kurian, Manju A. ; Parker, Alasdair ; Rankin, Julia ; Reid, Evan ; Wakeling, Emma ; Wassmer, Evangeline ; Woods, C. Geoffrey ; Raymond, F. Lucy ; Carss, Keren J.

American journal of human genetics, 2023-08, Vol.110 (8), p.1343-1355 [Periódico revisado por pares]

United States: Elsevier Inc

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