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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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2
Ocular manifestations of Kyasanur forest disease (a clinical study)
Ocular manifestations of Kyasanur forest disease (a clinical study)
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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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3
Destruction and Arthroplasties of the Metatarsophalangeal Joints in Seropositive Rheumatoid Arthritis: A 20-year follow-up study
Destruction and Arthroplasties of the Metatarsophalangeal Joints in Seropositive Rheumatoid Arthritis: A 20-year follow-up study
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Destruction and Arthroplasties of the Metatarsophalangeal Joints in Seropositive Rheumatoid Arthritis: A 20-year follow-up study

BELT, E. A ; KAARELA, K ; LEHTO, M. U. K

Scandinavian journal of rheumatology, 1998, Vol.27 (3), p.194-196 [Periódico revisado por pares]

Colchester: Informa UK Ltd

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4
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil
Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil
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Ca2+ homeostasis in Brody's disease. A study in skeletal muscle and cultured muscle cells and the effects of dantrolene an verapamil

Benders, A A ; Veerkamp, J H ; Oosterhof, A ; Jongen, P J ; Bindels, R J ; Smit, L M ; Busch, H F ; Wevers, R A

The Journal of clinical investigation, 1994-08, Vol.94 (2), p.741-748 [Periódico revisado por pares]

United States

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5
Hamstring injuries: radiographic, conventional tomographic, CT, and MR imaging characteristics
Hamstring injuries: radiographic, conventional tomographic, CT, and MR imaging characteristics
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Hamstring injuries: radiographic, conventional tomographic, CT, and MR imaging characteristics

BRANDSER, E. A ; EL-KHOURY, G. Y ; KATHOL, M. H ; CALLAGHAN, J. J ; TEARSE, D. S

Radiology, 1995-10, Vol.197 (1), p.257-262 [Periódico revisado por pares]

Oak Brook, IL: Radiological Society of North America

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6
Probability density of the surface electromyogram and its relation to amplitude detectors
Probability density of the surface electromyogram and its relation to amplitude detectors
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Probability density of the surface electromyogram and its relation to amplitude detectors

Clancy, E.A. ; Hogan, N.

IEEE transactions on biomedical engineering, 1999-06, Vol.46 (6), p.730-739 [Periódico revisado por pares]

New York, NY: IEEE

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7
Histological subtypes of symptomatic central nervous system tumours in Singapore
Histological subtypes of symptomatic central nervous system tumours in Singapore
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Histological subtypes of symptomatic central nervous system tumours in Singapore

Das, A ; Chapman, C A T ; Yap, W M

Journal of neurology, neurosurgery and psychiatry, 2000-03, Vol.68 (3), p.372-374 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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8
Two sequential outbreaks in two villages illustrate the various modes of transmission of cholera
Two sequential outbreaks in two villages illustrate the various modes of transmission of cholera
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Two sequential outbreaks in two villages illustrate the various modes of transmission of cholera

DAS, A. ; MANICKAM, P. ; HUTIN, Y. ; PATTANAIK, B. ; PAL, B. B. ; CHHOTRAY, G. P. ; KAR, S. K. ; GUPTE, M. D.

Epidemiology and infection, 2009-06, Vol.137 (6), p.906-912 [Periódico revisado por pares]

Cambridge, UK: Cambridge University Press

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9
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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10
A retrospective review of patients with clinically definite multiple sclerosis
A retrospective review of patients with clinically definite multiple sclerosis
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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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