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The Journal of clinical investigation, 2023-01, Vol.133 (2), p.1-13
2023
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Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.38-38, Article 38
2021
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Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.341-341, Article 341
2021
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The Lancet (British edition), 2007-08, Vol.370 (9586), p.504-510
2007
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Journal of inherited metabolic disease, 2017-05, Vol.40 (3), p.357-368
- Baruteau, Julien
- Jameson, Elisabeth
- Morris, Andrew A.
- Chakrapani, Anupam
- Santra, Saikat
- Vijay, Suresh
- Kocadag, Huriye
- Beesley, Clare E.
- Grunewald, Stephanie
- Murphy, Elaine
- Cleary, Maureen
- Mundy, Helen
- Abulhoul, Lara
- Broomfield, Alexander
- Lachmann, Robin
- Rahman, Yusof
- Robinson, Peter H.
- MacPherson, Lesley
- Foster, Katharine
- Chong, W. Kling
- Ridout, Deborah A.
- Bounford, Kirsten McKay
- Waddington, Simon N.
- Mills, Philippa B.
- Gissen, Paul
- Davison, James E.
2017
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Biology (Basel, Switzerland), 2020-05, Vol.9 (5), p.108
2020
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American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2334-2338
2013
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Journal of medical genetics, 2011-10, Vol.48 (10), p.691-697
2011
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Acta Paediatrica, 2018-12, Vol.107 (12), p.2059-2065
2018
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JIMD reports, 2022-03, Vol.63 (2), p.123-130
2022
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Archives of disease in childhood. Education and practice edition, 2019-02, Vol.104 (1), p.16
2019
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Journal of clinical medicine, 2021-09, Vol.10 (19), p.4445
2021
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JIMD reports, 2020-03, Vol.52 (1), p.72-78
2020
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Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.117-117, Article 117
2017
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Metabolites, 2019-11, Vol.9 (11), p.275
2019
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JIMD Reports, Volume 27, 2016, Vol.27, p.79-84
2016
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The New England journal of medicine, 2021-11, Vol.385 (20), p.1868-1880
- Martin, Antonio
- Arno, Gavin
- Tucci, Arianna
- Chan, Georgia
- Williams, Hywel J
- Stirrups, Kathleen
- Ibanez, Kristina
- Moutsianas, Loukas
- Vestito, Letizia
- Wordsworth, Sarah
- Ashford, Sofie
- Spasic-Boskovic, Olivera
- Gurnell, Mark
- Burrows, Nigel
- Dewhurst, Eleanor
- Gräf, Stefan
- Mapeta, Rutendo
- Haworth, Andrea
- Savage, Helen
- Reese, Martin G
- Baple, Emma
- Boustred, Christopher
- de Burca, Anna
- Kasperaviciute, Dalia
- Polychronopoulos, Dimitris
- Matchan, Angela
- Tavares, Ana L T
- Turnbull, Clare
- Leigh, Sarah
- Leong, Ivone U S
- Wright, Caroline F
- Davies, Jim
- Crichton, Charles
- Welch, James
- Abulhoul, Lara
- Aurora, Paul
- Cleary, Maureen A
- Footitt, Emma
- Ganesan, Vijeya
- Compeyrot-Lacassagne, Sandrine
- Pilkington, Clarissa
- Thapar, Nikhil
- Worth, Austen
- Compton, Cecilia
- Fassihi, Hiva
- Haque, Eshika
- Izatt, Louise
- Rose, Sarah
- Shaw, Adam C
- Wolejko, Agata
- Burns, Gavin
- Hunter, Sarah
- Grocock, Russell J
- Humphray, Sean J
- Robinson, Peter N
- Haendel, Melissa
- Simpson, Michael A
- Clayton-Smith, Jill
- Douzgou, Sofia
- Hall, Georgina
- O'Keefe, Raymond T
- Michaelides, Michel
- Pontikos, Nikolas
- Straub, Volker
- Gorman, Gráinne S
- Schaefer, Andrew M
- Yu-Wai-Man, Patrick
- McFarland, Robert
- Taylor, Robert W
- O'Connor, Emer
- Morris, Huw R
- Wood, Nicholas W
- Campbell, Carolyn
- Camps, Carme
- Koelling, Nils
- Palles, Claire
- Patel, Smita
- Sen, Arjune
- Taylor, John
- Cacheiro, Pilar
- Jacobsen, Julius O
- Seaby, Eleanor G
- Ellard, Sian
- Wilson, Gill
- Beales, Phil
- Black, Graeme
- Burn, John
- Chinnery, Patrick F
- Newman, William
- Rahman, Shamima
- Taylor, Jenny C
- Webster, Andrew R
- Wilkie, Andrew O M
- Ouwehand, Willem H
- Raymond, F Lucy
- Chisholm, John
- Hill, Sue
- Bentley, David
- Rendon, Augusto
- Caulfield, Mark
2021
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Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S24-S24
2019
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Molecular genetics and metabolism, 2020-02, Vol.129 (2), p.S163-S163
2020
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Paediatrics and child health, 2019-03, Vol.29 (3), p.111-115
2019
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Journal of inherited metabolic disease, 2021-11, Vol.44 (6), p.1353-1368
2021
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Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S35-S35
2022
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Spine (Philadelphia, Pa. 1976), 2018-12, Vol.43 (24), p.E1443-E1453
2018
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The Journal of pediatrics, 2018-06, Vol.197, p.198-206.e2
2018
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Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S37-S37
2018
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