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Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations
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Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations

Foil, Kimberly E. ; Blanton, M. Gwen ; Sanders, Chris ; Kim, Joannah ; Al Ashry, Haitham S. ; Kumbhare, Suchit ; Strange, Charlie Sandford, Andrew ; Andrew Sandford

Pulmonary medicine, 2018-01, Vol.2018, p.2836389-6 [Periódico revisado por pares]

Egypt: Hindawi

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2
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Hadinnapola, Charaka ; Bleda, Marta ; Haimel, Matthias ; Screaton, Nicholas ; Swift, Andrew ; Dorfmüller, Peter ; Preston, Stephen D ; Southwood, Mark ; Hernandez-Sanchez, Jules ; Martin, Jennifer ; Treacy, Carmen ; Yates, Katherine ; Bogaard, Harm ; Church, Colin ; Coghlan, Gerry ; Condliffe, Robin ; Corris, Paul A ; Gibbs, Simon ; Girerd, Barbara ; Holden, Simon ; Humbert, Marc ; Kiely, David G ; Lawrie, Allan ; Machado, Rajiv ; MacKenzie Ross, Robert ; Moledina, Shahin ; Montani, David ; Newnham, Michael ; Peacock, Andrew ; Pepke-Zaba, Joanna ; Rayner-Matthews, Paula ; Shamardina, Olga ; Soubrier, Florent ; Southgate, Laura ; Suntharalingam, Jay ; Toshner, Mark ; Trembath, Richard ; Vonk Noordegraaf, Anton ; Wilkins, Martin R ; Wort, Stephen J ; Wharton, John ; Gräf, Stefan ; Morrell, Nicholas W

Circulation (New York, N.Y.), 2017-11, Vol.136 (21), p.2022-2033 [Periódico revisado por pares]

United States: American Heart Association

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3
Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease
Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease
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Analysis of data from the ERA-EDTA Registry indicates that conventional treatments for chronic kidney disease do not reduce the need for renal replacement therapy in autosomal dominant polycystic kidney disease

Spithoven, Edwin M. ; Kramer, Anneke ; Meijer, Esther ; Orskov, Bjarne ; Wanner, Christoph ; Caskey, Fergus ; Collart, Frederic ; Finne, Patrik ; Fogarty, Damian G. ; Groothoff, Jaap W. ; Hoitsma, Andries ; Nogier, Marie-Béatrice ; Postorino, Maurizio ; Ravani, Pietro ; Zurriaga, Oscar ; Jager, Kitty J. ; Gansevoort, Ron T. ; on behalf of the ERA-EDTA Registry, the EuroCYST consortium and the WGIKD

Kidney international, 2014-12, Vol.86 (6), p.1244-1252 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

West, Hannah ; Carss, Keren ; Shakeel, Hassan ; Adlard, Julian ; Cole, Trevor ; Kwong, Ava ; Paterson, Joan ; Searle, Claire ; Skytte, Anne-Bine ; Aitman, Timothy ; Ambegaonkar, Gautum ; Antrobus, Richard ; Arno, Gavin ; Astle, William ; Attwood, Antony ; Austin, Steve ; Bakchoul, Tamam ; Bennett, David ; Bitner-Glindzicz, Maria ; Bleda, Marta ; Bolton-Maggs, Paula ; Booth, Claire ; Clements-Brod, Naomi ; Clowes, Virginia ; Collins, Peter ; Cookson, Victoria ; Creaser-Myers, Amanda ; DaCosta, Rosa ; Davies, Sophie ; Deegan, Patrick ; Dewhurst, Eleanor ; Doffinger, Rainer ; Drewe, Elizabeth ; Favier, Remi ; Firth, Helen ; Furie, Bruce ; Furnell, Abigail ; Gardham, Alice ; Gissen, Paul ; Gomez, Keith ; Graf, Stefan ; Gräf, Stefan ; Greenhalgh, Alan ; Hackett, Scott ; Haimel, Matthias ; Herwadkar, Archana ; Holder, Muriel ; Huissoon, Aarnoud ; James, Roger ; Kennedy, Fiona ; Kingston, Nathalie ; Kuijpers, Taco ; Lawrie, Allan ; Lentaigne, Claire ; Machado, Rajiv ; Maher, Eamonn ; Mangles, Sarah ; Manson, Ania ; Matser, Vera ; McDermott, Elizabeth ; Megy, Karyn ; Millar, Carolyn M. ; Morrell, Nicholas ; Ouwehand, Willem H. ; Papadia, Sofia ; Payne, Jeanette ; Peacock, Andrew ; Pollock, Val ; Quinti, Isabella ; Rayner-Matthews, Paula ; Rehnstrom, Karola ; Rhodes, Christopher J. ; Richardson, Sylvia ; Richter, Alex ; Rondina, Matthew ; Rosser, Elisabeth ; Rue-Albrecht, Kevin ; Sargur, Ravishankar ; Savic, Sinisa ; Schotte, Gwen ; Schulze, Harald ; Seneviratne, Suranjith ; Shamardina, Olga ; Simeoni, Ilenia ; Staines, Simon ; Stark, Hannah ; Stock, Sophie ; Thaventhiran, James ; Thompson, Dorothy ; Toh, Cheng-Hock ; Turek, Wojciech ; Wassmer, Evangeline ; Watt, Christopher ; Wharton, John ; Williamson, Catherine ; Woods, Geoff ; Wort, John ; Yeatman, Nigel ; Tischkowitz, Marc D. ; Maher, Eamonn R.

American journal of human genetics, 2018-07, Vol.103 (1), p.3-18 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Sex and Age Are Determinants of the Clinical Phenotype of Primary Biliary Cirrhosis and Response to Ursodeoxycholic Acid
Sex and Age Are Determinants of the Clinical Phenotype of Primary Biliary Cirrhosis and Response to Ursodeoxycholic Acid
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Sex and Age Are Determinants of the Clinical Phenotype of Primary Biliary Cirrhosis and Response to Ursodeoxycholic Acid

Carbone, Marco ; Mells, George F ; Pells, Greta ; Dawwas, Muhammad F ; Newton, Julia L ; Heneghan, Michael A ; Neuberger, James M ; Day, Darren B ; Ducker, Samantha J ; Sandford, Richard N ; Alexander, Graeme J ; Jones, David E.J

Gastroenterology (New York, N.Y. 1943), 2013-03, Vol.144 (3), p.560-569.e7 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Gadolinium‐free assessment of synovitis using diffusion tensor imaging
Gadolinium‐free assessment of synovitis using diffusion tensor imaging
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Gadolinium‐free assessment of synovitis using diffusion tensor imaging

Sandford, Halston J. C. ; MacKay, James W. ; Watkins, Lauren E. ; Gold, Garry E. ; Kogan, Feliks ; Mazzoli, Valentina

NMR in biomedicine, 2022-01, Vol.35 (1), p.e4614-n/a [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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7
What is the Best Option for Elective Repair of an Abdominal Aortic Aneurysm in a Young Fit Patient?
What is the Best Option for Elective Repair of an Abdominal Aortic Aneurysm in a Young Fit Patient?
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What is the Best Option for Elective Repair of an Abdominal Aortic Aneurysm in a Young Fit Patient?

Sandford, R.M ; Choke, E ; Bown, M.J ; Sayers, R.D

European journal of vascular and endovascular surgery, 2014-01, Vol.47 (1), p.13-18 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Dual Antiplatelet Therapy Prior to Expedited Carotid Surgery Reduces Recurrent Events Prior to Surgery without Significantly Increasing Peri-operative Bleeding Complications
Dual Antiplatelet Therapy Prior to Expedited Carotid Surgery Reduces Recurrent Events Prior to Surgery without Significantly Increasing Peri-operative Bleeding Complications
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Dual Antiplatelet Therapy Prior to Expedited Carotid Surgery Reduces Recurrent Events Prior to Surgery without Significantly Increasing Peri-operative Bleeding Complications

Batchelder, A ; Hunter, J ; Cairns, V ; Sandford, R ; Munshi, A ; Naylor, A.R

European journal of vascular and endovascular surgery, 2015-10, Vol.50 (4), p.412-419 [Periódico revisado por pares]

England: Elsevier Ltd

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9
A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma
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A Canadian genome-wide association study and meta-analysis confirm HLA as a risk factor for peanut allergy independent of asthma

Asai, Yuka ; Eslami, Aida ; van Ginkel, C. Dorien ; Akhabir, Loubna ; Wan, Ming ; Yin, David ; Ellis, George ; Ben-Shoshan, Moshe ; Marenholz, Ingo ; Martino, David ; Ferreira, Manuel A. ; Allen, Katrina ; Mazer, Bruce ; de Groot, Hans ; de Jong, Nicolette W. ; Gerth van Wijk, Roy ; Dubois, Anthony E.J. ; Grosche, Sarah ; Ashley, Sarah ; Rüschendorf, Franz ; Kalb, Birgit ; Beyer, Kirsten ; Nöthen, Markus M. ; Lee, Young-Ae ; Chin, Rick ; Cheuk, Stephen ; Hoffman, Joshua ; Jorgensen, Eric ; Witte, John S. ; Melles, Ronald B. ; Hong, Xiumei ; Wang, Xiaobin ; Hui, Jennie ; Musk, Arthur W. (Bill) ; Hunter, Michael ; James, Alan L. ; Koppelman, Gerard H. ; Sandford, Andrew J. ; Clarke, Ann E. ; Daley, Denise

Journal of allergy and clinical immunology, 2018-04, Vol.141 (4), p.1513-1516 [Periódico revisado por pares]

United States: Elsevier Inc

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10
The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis
The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis
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The inter‐relationship of symptom severity and quality of life in 2055 patients with primary biliary cholangitis

Dyson, J. K ; Wilkinson, N. ; Jopson, L. ; Mells, G. ; Bathgate, A. ; Heneghan, M. A. ; Neuberger, J. ; Hirschfield, G. M. ; Ducker, S. J. ; Sandford, R. ; Alexander, G. ; Stocken, D. ; Jones, D. E. J.

Alimentary pharmacology & therapeutics, 2016-11, Vol.44 (10), p.1039-1050 [Periódico revisado por pares]

England: John Wiley and Sons Inc

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