|
🐜
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X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
11 auth.
S. Knight,
N. Heiss,
T. Vulliamy,
S. Greschner,
G. Stavrides,
G. Pai,
...
G. Lestringant,
N. Varma,
Philip J. Mason,
I. Dokal,
Annemarie Poustka
|
8 |
1999 |
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
🐜
|
|
🐜
|
Atrichia with papular lesions resulting from a nonsense mutation within the human hairless gene.
8 auth.
E. Sprecher,
G. Lestringant,
R. Szargel,
R. Bergman,
V. Labay,
P. Frossard,
...
R. Friedman‐Birnbaum,
N. Cohen
|
5 |
1999 |
5
🐜
|
|
🐜
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Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions.
13 auth.
M. Pigors,
O. Sarig,
L. Heinz,
V. Plagnol,
J. Fischer,
J. Mohamad,
N. Malchin,
S. Rajpopat,
M. Kharfi,
G. Lestringant,
...
E. Sprecher,
D. Kelsell,
D. Blaydon
|
4 |
2016 |
4
🐜
|
|
🐜
|
Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population
25 auth.
J. Mohamad,
L. Samuelov,
N. Malchin,
T. Rabinowitz,
S. Assaf,
L. Malki,
K. Malovitski,
S. Israeli,
M. Grafi-Cohen,
O. Bitterman-Deutsch,
V. Molho-Pessach,
E. Cohen‐Barak,
G. Bach,
Ben Zion Garty,
R. Bergman,
...
A. Harel,
A. Nanda,
G. Lestringant,
J. McGrath,
S. Shalev,
N. Shomron,
J. Mashiah,
M. Eskin-Schwartz,
E. Sprecher,
O. Sarig
|
4 |
2021 |
4
🐜
|
|
🦁
|
Diffuse Calcinosis cutis in a Patient with Congenital Leukemia and Leukemia cutis
G. Lestringant,
I. Masouyé,
Mohammed El-Hayek,
C. Girardet,
T. Révész,
P. Frossard
|
4 |
2000 |
4
🦁
|
|
🐬
|
Cutaneous Nocardiosis of the Chest Wall and Pleura – 10-Year Consequences of a Hand Actinomycetoma
K. Saarinen,
G. Lestringant,
J. Czechowski,
P. Frossard
|
3 |
2001 |
3
🐬
|
|
🐬
|
Xeroderma pigmentosum in four siblings with three different types of malignancies simultaneously in one.
Mohammed El-Hayek,
G. Lestringant,
P. Frossard
|
3 |
2004 |
3
🐬
|
|
🐬
|
SEROLOGIC TESTS FOR TREPONEMATOSES IN THE UNITED ARAB EMIRATES
H. Nsanze,
G. Lestringant,
A. Ameen,
JEAN MARIE Lambert,
I. Galadari,
M. Usmani
|
2 |
1996 |
2
🐬
|
