BetterScholar BetterScholar
10
Role
Title
Level Year L/R
🐜 Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
27 auth. D. Kelsell, E. Norgett, Harriet C Unsworth, M. Teh, T. Cullup, C. Mein, P. Dopping-Hepenstal, B. Dale, G. Tadini, P. Fleckman, K. Stephens, V. Sybert, S. Mallory, B. North, D. Witt, ... E. Sprecher, A. Taylor, A. Ilchyshyn, C. Kennedy, H. Goodyear, C. Moss, D. Paige, J. Harper, B. Young, I. Leigh, R. Eady, E. O’Toole
8 2005
8
🐜
🐜 Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
24 auth. S. Rajpopat, C. Moss, J. Mellerio, A. Vahlquist, A. Gånemo, M. Hellstrom-Pigg, A. Ilchyshyn, N. Burrows, G. Lestringant, A. Taylor, ... C. Kennedy, D. Paige, J. Harper, M. Glover, P. Fleckman, D. Everman, M. Fouani, H. Kayserili, D. Purvis, E. Hobson, C. Chu, C. Mein, D. Kelsell, E. O’Toole
7 2011
7
🐜
🐜 Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
11 auth. W. McLean, R. Eady, P. Dopping-Hepenstal, J. McMillan, I. Leigh, H. Navsaria, ... C. Higgins, J. Harper, D. Paige, S. Morley, E. Lane
6 1994
6
🐜
🦁 Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
D. Paige, N. Morse-Fisher, J. Harper
6 1994
6
🦁
🐜 Management of congenital ichthyoses: European guidelines of care, part one
36 auth. J. Mazereeuw-Hautier, A. Vahlquist, H. Traupe, A. Bygum, C. Amaro, M. Aldwin, A. Audouze, C. Bodemer, E. Bourrat, A. Diociaiuti, M. Dolenc-Voljč, I. Dreyfus, M. Hachem, J. Fischer, A. Gånemo, ... C. Gouveia, R. Gruber, S. Hadj-Rabia, D. Hohl, N. Jonca, K. Ezzedine, D. Maier, R. Malhotra, Michael C. Rodriguez, Hagen Ott, D. Paige, A. Pietrzak, F. Poot, M. Schmuth, J. Sitek, P. Steijlen, G. Wehr, M. Moreen, E. O’Toole, V. Oji, Á. Hernández-Martín
6 2018
6
🐜
🐜 Management of congenital ichthyoses: European guidelines of care, part two
37 auth. J. Mazereeuw-Hautier, Á. Hernández-Martín, E. O’Toole, A. Bygum, C. Amaro, M. Aldwin, A. Audouze, C. Bodemer, E. Bourrat, A. Diociaiuti, M. Dolenc-Voljč, I. Dreyfus, M. Hachem, J. Fischer, A. Gånemo, ... C. Gouveia, R. Gruber, S. Hadj-Rabia, D. Hohl, N. Jonca, K. Ezzedine, D. Maier, R. Malhotra, M. Rodriguez, H. Ott, D. Paige, A. Pietrzak, F. Poot, M. Schmuth, J. Sitek, P. Steijlen, G. Wehr, M. Moreen, A. Vahlquist, H. Traupe, V. Oji, Mazereeuw-Hautier Juliette
6 2018
6
🐜
🦁 Bone changes and their significance in children with ichthyosis on long‐term etretinate therapy
D. Paige, M. Judge, D. Shaw, D. Atherton, J. Harper
5 1992
5
🦁
🦁 A clinical and genetic study of X‐linked recessive ichthyosis and contiguous gene defects
D. Paige, G. Emilion, P. Bouloux, J. Harper
5 1994
5
🦁
🐬 Golf Tee Hairs in Netherton Disease
D. Berker, D. Paige, D. Ferguson, R. Dawber
5 1995
5
🐬
🐬 Palisaded neutrophilic granulomatous dermatitis associated with systemic lupus erythematosus presenting with the burning rope sign.
A. Gulati, D. Paige, M. Yaqoob, C. Proby, R. Cerio, C. Harwood
5 2009
5
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