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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
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8 |
2005 |
8 🐜
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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 🐜
|
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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 🐜
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Quantification of stratum corneum ceramides and lipid envelope ceramides in the hereditary ichthyoses
D. Paige,
N. Morse-Fisher,
J. Harper
|
6 |
1994 |
6 🦁
|
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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 🐜
|
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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 🐜
|
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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 🦁
|
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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 🦁
|
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Golf Tee Hairs in Netherton Disease
D. Berker,
D. Paige,
D. Ferguson,
R. Dawber
|
5 |
1995 |
5 🐬
|
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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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