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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
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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Cognitive deficits in spinocerebellar ataxia 2
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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3
Testicular epidermoid cyst
Testicular epidermoid cyst
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Testicular epidermoid cyst

Çakıroğlu, Basri ; Sönmez, Nurettin Cem ; Sinanoğlu, Orhun ; Ateş, Lora ; Aksoy, Süleyman Hilmi ; Özcan, Faruk

African journal of paediatric surgery, 2015-01, Vol.12 (1), p.89-90 [Periódico revisado por pares]

India: Medknow Publications and Media Pvt. Ltd

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Models for the modern power grid
Models for the modern power grid
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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

5
Does tranexamic acid improve intra-operative visualisation in endoscopic ear surgery? A double-blind, randomised, controlled trial
Does tranexamic acid improve intra-operative visualisation in endoscopic ear surgery? A double-blind, randomised, controlled trial
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Does tranexamic acid improve intra-operative visualisation in endoscopic ear surgery? A double-blind, randomised, controlled trial

Das, A ; Mitra, S ; Ghosh, D ; Kumar, S ; Sengupta, A

Journal of laryngology and otology, 2019-12, Vol.133 (12), p.1033-1037 [Periódico revisado por pares]

England: Cambridge University Press

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6
Endoscopic epitympanic exploration in mucosal chronic otitis media: is canal wall up mastoidectomy really needed?
Endoscopic epitympanic exploration in mucosal chronic otitis media: is canal wall up mastoidectomy really needed?
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Endoscopic epitympanic exploration in mucosal chronic otitis media: is canal wall up mastoidectomy really needed?

Das, A ; Mitra, S ; Hazra, S ; Sengupta, A

Journal of laryngology and otology, 2021-01, Vol.135 (1), p.39-44 [Periódico revisado por pares]

Cambridge, UK: Cambridge University Press

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7
Comparison of hemodynamic endpoints between normal subject and tetralogy patient using Womersley velocity profile and MR based flow measurements
Comparison of hemodynamic endpoints between normal subject and tetralogy patient using Womersley velocity profile and MR based flow measurements
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Comparison of hemodynamic endpoints between normal subject and tetralogy patient using Womersley velocity profile and MR based flow measurements

Das, Ashish ; Gottliebson, William M ; Karve, Madhura ; Banerjee, Rupak

Molecular & cellular biomechanics, 2011-03, Vol.8 (1), p.21-42

United States: Tech Science Press

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8
The functional roles of prefrontal cortex in episodic memory. I. Encoding
The functional roles of prefrontal cortex in episodic memory. I. Encoding
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The functional roles of prefrontal cortex in episodic memory. I. Encoding

FLETCHER, P. C ; SHALLICE, T ; DOLAN, R. J

Brain (London, England : 1878), 1998-07, Vol.121 (7), p.1239-1248 [Periódico revisado por pares]

Oxford: Oxford University Press

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9
Quality of life assessment after non-laser endonasal dacryocystorhinostomy
Quality of life assessment after non-laser endonasal dacryocystorhinostomy
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Quality of life assessment after non-laser endonasal dacryocystorhinostomy

Ho, A. ; Sachidananda, R. ; Carrie, S. ; Neoh, C.

Clinical otolaryngology, 2006-10, Vol.31 (5), p.399-403 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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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
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. Godoy, I
  3. Hueb, J
  4. Sano, P
  5. Imprensa, S

Neste Assunto:

  1. Male
  2. Male
  3. Humans
  4. Science & Technology
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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