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🦁
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Arterial tortuosity syndrome: 40 new families and literature review
64 auth.
A. Beyens,
J. Albuisson,
A. Boel,
Mazen Al-Essa,
Waheed Al-Manea,
D. Bonnet,
O. Bostan,
O. Boute,
T. Busa,
N. Canham,
E. Çil,
P. Coucke,
M. Cousin,
M. Dasouki,
J. De Backer,
...
A. De Paepe,
S. de Schepper,
D. D. de Silva,
K. Devriendt,
I. de Wandele,
D. Deyle,
H. Dietz,
S. Dupuis-Girod,
E. Fontenot,
Björn Fischer-Zirnsak,
A. Gezdirici,
J. Ghoumid,
F. Giuliano,
N. B. Díez,
M. Z. Haider,
Joshua S. Hardin,
X. Jeunemaître,
E. Klee,
U. Kornak,
M. Landecho,
A. Legrand,
B. Loeys,
S. Lyonnet,
Helen Michael,
P. Moceri,
S. Mohammed,
L. Muiño-Mosquera,
S. Nampoothiri,
K. Pichler,
K. Prescott,
A. Rajeb,
M. Ramos-Arroyo,
M. Rossi,
M. Salih,
M. Z. Seidahmed,
E. Schaefer,
E. Steichen‐Gersdorf,
S. Temel,
F. Uysal,
M. Vanhomwegen,
L. Van Laer,
L. Van Maldergem,
D. Warner,
A. Willaert,
T. R. Collins,
A. Taylor,
E. Davis,
Y. Zarate,
B. Callewaert
|
6 |
2018 |
6
🦁
|
|
🐜
|
A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix.
9 auth.
S. Karoulias,
A. Beyens,
Zerina Balic,
S. Symoens,
A. Vandersteen,
A. Rideout,
...
J. Dickinson,
B. Callewaert,
D. Hubmacher
|
5 |
2019 |
5
🐜
|
|
🦁
|
Cutis laxa: A comprehensive overview of clinical characteristics and pathophysiology
A. Beyens,
A. Boel,
S. Symoens,
B. Callewaert
|
4 |
2020 |
4
🦁
|
|
🦁
|
Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature
12 auth.
A. Beyens,
Kyaran Van Meensel,
L. Pottie,
R. De Rycke,
Michiel De Bruyne,
F. Baeke,
...
P. Hoebeke,
F. Plasschaert,
B. Loeys,
S. de Schepper,
S. Symoens,
B. Callewaert
|
4 |
2019 |
4
🦁
|
|
🐜
|
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
29 auth.
L. Pottie,
Christin S. Adamo,
A. Beyens,
Steffen Lütke,
Piyanoot Tapaneeyaphan,
Adelbert De Clercq,
P. Salmon,
R. De Rycke,
A. Gezdirici,
E. Gulec,
Naz Khan,
J. Urquhart,
W. Newman,
K. Metcalfe,
S. Efthymiou,
...
R. Maroofian,
Najwa Anwar,
S. Maqbool,
F. Rahman,
I. Altweijri,
Monerah Alsaleh,
S. M. Abdullah,
M. Al-Owain,
M. Hashem,
H. Houlden,
F. Alkuraya,
P. Sips,
G. Sengle,
B. Callewaert
|
4 |
2021 |
4
🐜
|
|
🐜
|
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum
11 auth.
Ilse Meerschaut,
A. Beyens,
W. Steyaert,
R. De Rycke,
K. Bonte,
T. D. de Backer,
...
S. Janssens,
J. Panzer,
F. Plasschaert,
D. De Wolf,
B. Callewaert
|
4 |
2019 |
4
🐜
|
|
🦁
|
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
15 auth.
A. Beyens,
E. Moreno-Artero,
C. Bodemer,
H. Cox,
A. Gezdirici,
Elif Yilmaz Gulec,
N. Kahloul,
P. Khau Van Kien,
G. Oǧur,
A. Harroche,
...
M. Vasse,
A. Salhi,
S. Symoens,
S. Hadj-Rabia,
B. Callewaert
|
3 |
2018 |
3
🦁
|
