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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report

100,000 Genomes Project Pilot Investigators ; Cipriani, Valentina ; Ellingford, Jamie M ; Tucci, Arianna ; Chan, Georgia ; Ratnaike, Thiloka ; Wei, Wei ; Stirrups, Kathleen ; Moutsianas, Loukas ; Wielscher, Matthias ; Barnes, Michael R ; Buchanan, James ; Wordsworth, Sarah ; Ashford, Sofie ; Twiss, Philip ; Halsall, Sally ; Poole, Kenneth ; Wagner, Annette ; Gurnell, Mark ; Burrows, Nigel ; Mapeta, Rutendo ; Haworth, Andrea ; Savage, Helen ; Babcock, Melanie ; Boustred, Christopher ; Devereau, Andrew ; Halai, Dina ; Hyder, Zerin ; Kasperaviciute, Dalia ; Patch, Christine ; Matchan, Angela ; Tavares, Ana LT ; Tregidgo, Carolyn ; Welland, Matthew ; Leigh, Sarah ; Foulger, Rebecca E ; Daugherty, Louise C ; Niblock, Olivia ; Leong, Ivone US ; Welch, James ; Woods, Kerrie ; Abulhoul, Lara ; Aurora, Paul ; Broomfield, Alexander ; Cleary, Maureen A ; Lam, Tanya ; Grunewald, Stephanie ; Muntoni, Francesco ; Thapar, Nikhil ; Wallis, Colin ; Worth, Austen ; Bueser, Teofila ; Compton, Cecilia ; Fassihi, Hiva ; Ruddy, Deborah ; Sarkany, Robert ; Shaw, Adam C ; Habib, Bishoy ; Burns, Gavin ; Robinson, Peter N ; Haendel, Melissa ; Simpson, Michael A ; Banka, Siddharth ; Clayton-Smith, Jill ; Douzgou, Sofia ; O'Keefe, Raymond T ; Michaelides, Michel ; Malka, Sam ; Straub, Volker ; Gorman, Gráinne S ; Horvath, Rita ; Schaefer, Andrew M ; O'Connor, Emer ; Yip, Janice ; Morris, Huw R ; Polke, James ; Wood, Nicholas W ; Camps, Carme ; Lester, Tracy ; Németh, Andrea H ; Patel, Smita ; Sen, Arjune ; Cacheiro, Pilar ; Chitty, Lyn ; McMullan, Dom ; Temple, I Karen ; Wilson, Gill ; Beales, Phil ; Bradley, John R ; Chinnery, Patrick F ; Flinter, Frances ; Houlden, Henry ; Rahman, Shamima ; Webster, Andrew R ; Wilkie, Andrew OM ; Ouwehand, Willem H ; Chisholm, John ; Bentley, David ; Fowler, Tom ; Rendon, Augusto

Department of Haematology 2021-11

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2
Ocular manifestations of Kyasanur forest disease (a clinical study)
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Artigo
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Ocular manifestations of Kyasanur forest disease (a clinical study)

a a

Indian journal of ophthalmology, 1983-09, Vol.31 (5), p.700-702 [Periódico revisado por pares]

India: Wolters Kluwer Medknow Publications

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A case of migratory lymphadenopathy and cutaneous anergy in an Asian woman
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A case of migratory lymphadenopathy and cutaneous anergy in an Asian woman

Al Attia, Haider M ; Al Ahmed, Yasser H ; El Hag, Afaf ; El Abassi, Rima N

Postgraduate medical journal, 2000-10, Vol.76 (900), p.660-660 [Periódico revisado por pares]

England: The Fellowship of Postgraduate Medicine

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4
Cognitive deficits in spinocerebellar ataxia 2
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Cognitive deficits in spinocerebellar ataxia 2

Bürk, K. ; Globas, C. ; Bösch, S. ; Gräber, S. ; Abele, M. ; Brice, A. ; Dichgans, J. ; Daum, I. ; Klockgether, T.

Brain (London, England : 1878), 1999-04, Vol.122 (4), p.769-777 [Periódico revisado por pares]

Oxford: Oxford University Press

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5
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Models for the modern power grid

Cardieri, Paulo, 1964- Universidade Estadual de Campinas (Unicamp); Universidade Estadual De Campinas

https://repositorio.unicamp.br/acervo/detalhe/1191204

2014

Acesso online

6
The increasing challenge of never smokers with adenocarcinoma lung: Need to look beyond tobacco exposure
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The increasing challenge of never smokers with adenocarcinoma lung: Need to look beyond tobacco exposure

Das, A ; Krishnamurthy, A ; Ramshankar, V ; Sagar, T ; Swaminathan, R

Indian journal of cancer, 2017-01, Vol.54 (1), p.172 [Periódico revisado por pares]

Mumbai: Medknow Publications and Media Pvt. Ltd

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7
A retrospective review of patients with clinically definite multiple sclerosis
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Artigo
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A retrospective review of patients with clinically definite multiple sclerosis

Das, A ; Puvanendran, K

Annals of the Academy of Medicine, Singapore, 1998-03, Vol.27 (2), p.204-209 [Periódico revisado por pares]

Singapore

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8
Hippocampal tissue of patients with refractory temporal lobe epilepsy is associated with astrocyte activation, inflammation, and altered expression of channels and receptors
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Hippocampal tissue of patients with refractory temporal lobe epilepsy is associated with astrocyte activation, inflammation, and altered expression of channels and receptors

Das, A ; Wallace, G.C ; Holmes, C ; McDowell, M.L ; Smith, J.A ; Marshall, J.D ; Bonilha, L ; Edwards, J.C ; Glazier, S.S ; Ray, S.K ; Banik, N.L

Neuroscience, 2012-09, Vol.220, p.237-246 [Periódico revisado por pares]

Amsterdam: Elsevier Ltd

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9
Premorbid Sociodemographic Status and Multiple Sclerosis Outcomes in a Universal Health Care Context
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Premorbid Sociodemographic Status and Multiple Sclerosis Outcomes in a Universal Health Care Context

He, A ; Manouchehrinia, A ; Glaser, A ; Ciccarelli, O ; Butzkueven, H ; Hillert, J ; McKay, KA

American Medical Association (AMA) 2023-09

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10
2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation
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2009 focused update incorporated into the ACC/AHA 2005 Guidelines for the Diagnosis and Management of Heart Failure in Adults: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines: developed in collaboration with the International Society for Heart and Lung Transplantation

Hunt, Sharon Ann ; Abraham, William T ; Chin, Marshall H ; Feldman, Arthur M ; Francis, Gary S ; Ganiats, Theodore G ; Jessup, Mariell ; Konstam, Marvin A ; Mancini, Donna M ; Michl, Keith ; Oates, John A ; Rahko, Peter S ; Silver, Marc A ; Stevenson, Lynne Warner ; Yancy, Clyde W

Circulation (New York, N.Y.), 2009-04, Vol.119 (14), p.e391-e479 [Periódico revisado por pares]

United States

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Deste Autor:

  1. Mauch, M
  2. Leonardi, E
  3. Morettin, E
  4. Sughihara, C
  5. Brigham & Womens Hosp

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