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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome
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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome

Ballew, Bari J ; Joseph, Vijai ; De, Saurav ; Sarek, Grzegorz ; Vannier, Jean-Baptiste ; Stracker, Travis ; Schrader, Kasmintan A ; Small, Trudy N ; O'Reilly, Richard ; Manschreck, Chris ; Harlan Fleischut, Megan M ; Zhang, Liying ; Sullivan, John ; Stratton, Kelly ; Yeager, Meredith ; Jacobs, Kevin ; Giri, Neelam ; Alter, Blanche P ; Boland, Joseph ; Burdett, Laurie ; Offit, Kenneth ; Boulton, Simon J ; Savage, Sharon A ; Petrini, John H J Scott, Hamish S.

PLoS genetics, 2013-08, Vol.9 (8), p.e1003695-e1003695 [Periódico revisado por pares]

United States: Public Library of Science

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2
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders
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Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders

Stewart, Douglas R ; Pemov, Alexander ; Johnston, Jennifer J ; Sapp, Julie C ; Yeager, Meredith ; He, Ji ; Boland, Joseph F ; Burdett, Laurie ; Brown, Christina ; Gatti, Richard A ; Alter, Blanche P ; Biesecker, Leslie G ; Savage, Sharon A Krahe, Ralf

PloS one, 2014-06, Vol.9 (6), p.e98686-e98686 [Periódico revisado por pares]

United States: Public Library of Science

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3
A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma
A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma
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A comprehensive candidate gene approach identifies genetic variation associated with osteosarcoma

Mirabello, Lisa ; Yu, Kai ; Berndt, Sonja I ; Burdett, Laurie ; Wang, Zhaoming ; Chowdhury, Salma ; Teshome, Kedest ; Uzoka, Arinze ; Hutchinson, Amy ; Grotmol, Tom ; Douglass, Chester ; Hayes, Richard B ; Hoover, Robert N ; Savage, Sharon A

BMC cancer, 2011-05, Vol.11 (1), p.209-209, Article 209 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
The Intersection of HPV Epidemiology, Genomics and Mechanistic Studies of HPV-Mediated Carcinogenesis
The Intersection of HPV Epidemiology, Genomics and Mechanistic Studies of HPV-Mediated Carcinogenesis
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The Intersection of HPV Epidemiology, Genomics and Mechanistic Studies of HPV-Mediated Carcinogenesis

Mirabello, Lisa ; Clarke, Megan A ; Nelson, Chase W ; Dean, Michael ; Wentzensen, Nicolas ; Yeager, Meredith ; Cullen, Michael ; Boland, Joseph F ; Schiffman, Mark ; Burk, Robert D

Viruses, 2018-02, Vol.10 (2), p.80 [Periódico revisado por pares]

Switzerland: MDPI AG

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5
PhenoImageShare: an image annotation and query infrastructure
PhenoImageShare: an image annotation and query infrastructure
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PhenoImageShare: an image annotation and query infrastructure

Adebayo, Solomon ; McLeod, Kenneth ; Tudose, Ilinca ; Osumi-Sutherland, David ; Burdett, Tony ; Baldock, Richard ; Burger, Albert ; Parkinson, Helen

Journal of biomedical semantics, 2016-06, Vol.7 (1), p.35-35, Article 35 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
The value of evidence synthesis in randomised controlled trial (RCT) design, conduct and analysis: MRC clinical trials unit (CTU) at UCL experience
The value of evidence synthesis in randomised controlled trial (RCT) design, conduct and analysis: MRC clinical trials unit (CTU) at UCL experience
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The value of evidence synthesis in randomised controlled trial (RCT) design, conduct and analysis: MRC clinical trials unit (CTU) at UCL experience

Tierney, Jayne F ; Burdett, Sarah ; Vale, Claire ; Rydzewska, Larysa ; Sydes, Matthew R ; Langley, Ruth E ; Kaplan, Richard S ; Parmar, Mahesh KB

Current controlled trials in cardiovascular medicine, 2015-11, Vol.16 (S2), p.O4-O4, Article O4 [Periódico revisado por pares]

BioMed Central

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7
Intraoperative oxygenation in adult patients undergoing surgery (iOPS): a retrospective observational study across 29 UK hospitals
Intraoperative oxygenation in adult patients undergoing surgery (iOPS): a retrospective observational study across 29 UK hospitals
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Intraoperative oxygenation in adult patients undergoing surgery (iOPS): a retrospective observational study across 29 UK hospitals

Morkane, Clare M ; McKenna, Helen ; Cumpstey, Andrew F ; Oldman, Alex H ; Grocott, Michael P W ; Martin, Daniel S

Perioperative medicine (London), 2018-07, Vol.7 (1), p.17-17, Article 17 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Adjunctive rifampicin to reduce early mortality from Staphylococcus aureus bacteraemia (ARREST): study protocol for a randomised controlled trial
Adjunctive rifampicin to reduce early mortality from Staphylococcus aureus bacteraemia (ARREST): study protocol for a randomised controlled trial
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Adjunctive rifampicin to reduce early mortality from Staphylococcus aureus bacteraemia (ARREST): study protocol for a randomised controlled trial

Thwaites, Guy ; Auckland, Cressida ; Barlow, Gavin ; Cunningham, Richard ; Davies, Gerry ; Edgeworth, Jonathan ; Greig, Julia ; Hopkins, Susan ; Jeyaratnam, Dakshika ; Jenkins, Neil ; Llewelyn, Martin ; Meisner, Sarah ; Nsutebu, Emmanuel ; Planche, Tim ; Read, Robert C ; Scarborough, Matthew ; Soares, Marta ; Tilley, Robert ; Török, M Estée ; Williams, John ; Wilson, Peter ; Wyllie, Sarah ; Walker, A Sarah

Current controlled trials in cardiovascular medicine, 2012-12, Vol.13 (1), p.241-241, Article 241 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders: e98686
Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders: e98686
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Dubowitz Syndrome Is a Complex Comprised of Multiple, Genetically Distinct and Phenotypically Overlapping Disorders: e98686

Stewart, Douglas R ; Pemov, Alexander ; Johnston, Jennifer J ; Sapp, Julie C ; Yeager, Meredith ; He, Ji ; Boland, Joseph F ; Burdett, Laurie ; Brown, Christina ; Gatti, Richard A

PloS one, 2014-06, Vol.9 (6) [Periódico revisado por pares]

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