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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
Towards a Noninvasive Approach to Malaria Diagnosis: Detection of Parasite DNA in Body Secretions and Surface Mucosa
Towards a Noninvasive Approach to Malaria Diagnosis: Detection of Parasite DNA in Body Secretions and Surface Mucosa
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Towards a Noninvasive Approach to Malaria Diagnosis: Detection of Parasite DNA in Body Secretions and Surface Mucosa

A-Elgayoum, Salwa M.E. ; El-Rayah, El-Amin ; Giha, Hayder A.

Journal of molecular microbiology and biotechnology, 2010-01, Vol.18 (3), p.148-155 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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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
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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6
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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7
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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8
Tinea pseudoimbricata: observations from a clinicoepidemiological and mycological study from eastern India
Tinea pseudoimbricata: observations from a clinicoepidemiological and mycological study from eastern India
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Tinea pseudoimbricata: observations from a clinicoepidemiological and mycological study from eastern India

Das, A. ; Sil, A. ; Verma, S. B. ; Kumar, S.

Clinical and experimental dermatology, 2022-01, Vol.47 (1), p.147-149 [Periódico revisado por pares]

England: Oxford University Press

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9
Transcatheter ablation of posteroseptal accessory pathways using a venous approach and radiofrequency energy
Transcatheter ablation of posteroseptal accessory pathways using a venous approach and radiofrequency energy
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Transcatheter ablation of posteroseptal accessory pathways using a venous approach and radiofrequency energy

Dhala, A A ; Deshpande, S S ; Bremner, S ; Hempe, S ; Sra, J S ; Blanck, Z ; Akhtar, M ; Jazayeri, M R

Circulation (New York, N.Y.), 1994-10, Vol.90 (4), p.1799-1810 [Periódico revisado por pares]

United States: American Heart Association, Inc

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10
Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients
Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients
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Association of Alport's syndrome with HLA-DR2 antigen in a group of unrelated patients

Donadi, E A ; Voltarelli, J C ; Paula-Santos, C M ; Kimachi, T ; Ferraz, A S

Brazilian journal of medical and biological research, 1998-04, Vol.31 (4), p.533-537 [Periódico revisado por pares]

Brazil: Associação Brasileira de Divulgação Científica

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