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1 . Academic Journal
Self-reported knee pain and disability among healthy individuals: reference data and factors associated with the Knee injury and Osteoarthritis Outcome Score (KOOS) and KOOS-Child
저자
by
Baldwin, J.N.
;
McKay, M.J.
;
Chard, A.
;
Ferreira, P.
;
Fong Yan, A.
, et al.
소스
In
Osteoarthritis and Cartilage
August 2017 25(8):1282-1290
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7 . Academic Journal
Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials
저자
by
Jayanetti, V.
;
Klistorner, A.I.
;
Graham, S.L.
;
Dexter, M.
;
Flaherty, M.P.
, et al.
소스
In
Journal of Clinical Neuroscience
April 2018 50:262-267
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7 . Academic Journal
Development and preliminary evaluation of the Neurofibromatosis Type 1 Adult Quality of Life (NF1‐AdQoL) questionnaire.
저자
by
Crawford, H.
;
North, K.
;
Wilson, M. J.
;
Berman, Y.
;
McKelvey‐Martin, V.
, et al.
소스
Clinical & Experimental Dermatology
. Feb2022, Vol. 47 Issue 2, p271-281. 11p. 1 Diagram, 5 Charts.
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7 . Academic Journal
S.O.2 - Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement
저자
by
Oates, E.
;
Yau, K.
;
Donkervoort, S.
;
Swanson, L.
;
Brammah, S.
, et al.
소스
In
Neuromuscular Disorders
October 2016 26 Supplement 2:S89-S89
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7 . Academic Journal
G.P.285 - TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders)
저자
by
Aartsma-Rus, A.
;
Hoffman, E.
;
Bucella, F.
;
Flanigan, K.
;
Kirschner, J.
, et al.
소스
In
Neuromuscular Disorders
October 2015 25 Supplement 2:S271-S271
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7 . Academic Journal
G.P.233 - Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy
저자
by
Lindfors, M.
;
Ghaoui, R.
;
Penttila, S.
;
Palmio, J.
;
Needham, M.
, et al.
소스
In
Neuromuscular Disorders
October 2015 25 Supplement 2:S256-S256
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7 . Academic Journal
G.O.2 - A gene for speed: The influence of ACTN3 on muscle performance in health and disease
저자
by
Houweling, P.
;
Seto, J.
;
Garton, F.
;
Quinlan, K.
;
Head, S.
, et al.
소스
In
Neuromuscular Disorders
October 2015 25 Supplement 2:S185-S185
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7 . Academic Journal
The self-concept of children and adolescents with neurofibromatosis type 1.
저자
by
Barton, B.
;
North, K.
.
소스
Child: Care, Health & Development
; Jul2007, Vol. 33 Issue 4, p401-408, 8p, 3 Charts, 1 Graph
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4 . Academic Journal
O08 A gene for speed: ACTN3, athletes, evolution and impact on human health
저자
by
North, K.
;
Danks, D.
.
소스
In
Neuromuscular Disorders
March 2014 24 Supplement 1:S2-S3
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4 .
Whole genome sequencing reveals host factors underlying critical Covid-19
저자
by
Kousathanas, A.
;
Pairo-Castineira, E.
;
Rawlik, K.
;
Stuckey, A.
;
Odhams, C. A.
, et al.
소스
Kousathanas, A, Pairo-Castineira, E, Rawlik, K, Stuckey, A, Odhams, C A, Walker, S, Russell, C D, Malinauskas, T, Wu, Y, Millar, J, Shen, X, Elliott, K S, Griffiths, F, Oosthuyzen, W, Morrice, K, Keating, S, Wang, B, Rhodes, D, Klaric, L, Zechner, M, Parkinson, N, Siddiq, A, Goddard, P, Donovan, S, Maslove, D, Nichol, A, Semple, M G, Zainy, T, Maleady-Crowe, F, Todd, L, Salehi, S, Knight, J, Elgar, G, Chan, G, Arumugam, P, Patch, C, Rendon, A, Bentley, D, Kingsley, C, Kosmicki, J A, Horowitz, J E, Baras, A, Abecasis, G R, Ferreira, M A R, Justice, A, Mirshahi, T, Oetjens, M, Rader, D J, Ritchie, M D, Verma, A, Fowler, T A, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D, Montgomery, H, Openshaw, P J M, Elliott, P, Walsh, T, Tenesa, A, Fawkes, A, Murphy, L, Rowan, K, Ponting, C P, Vitart, V, Wilson, J F, Yang, J, Bretherick, A D, Scott, R H, Hendry, S C, Moutsianas, L, Law, A & Caulfield, M J & Baillie, J K 2022, ' Whole genome sequencing reveals host factors underlying critical Covid-19 ', Nature, vol. 607, pp. 97-103 . https://doi.org/10.1038/s41586-022-04576-6
Nature, 607(7917), 97-103. Nature Publishing Group
GenOMICC Investigators, 23andMe & Covid-19 Human Genetics Initiative 2022, ' Whole genome sequencing reveals host factors underlying critical Covid-19 ', Nature . https://doi.org/10.1038/s41586-022-04576-6
Kousathanas, A, Nivard, M, de Geus, E, Bartels, M, Jan Hottenga, J, Baillie, J K, GenOMICC co-investigators, COVID-19 Human Genetics Initiative & 23andMe investigators 2022, ' Whole-genome sequencing reveals host factors underlying critical COVID-19 ', Nature, vol. 607, no. 7917, pp. 97-103 . https://doi.org/10.1038/s41586-022-04576-6
GenOMICC Investigators 2022, ' Whole-genome sequencing reveals host factors underlying critical COVID-19 ', Nature, vol. 607, no. 7917, pp. 97-103 . https://doi.org/10.1038/s41586-022-04576-6
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