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🐜
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The 2017 international classification of the Ehlers–Danlos syndromes
45 auth.
F. Malfait,
C. Francomano,
P. Byers,
J. Belmont,
B. Berglund,
J. Black,
Lara Bloom,
J. Bowen,
A. Brady,
N. Burrows,
M. Castori,
H. Cohen,
M. Colombi,
S. Demirdas,
J. De Backer,
...
A. De Paepe,
S. Fournel‐Gigleux,
M. Frank,
N. Ghali,
C. Giunta,
R. Grahame,
A. Hakim,
X. Jeunemaître,
Diana S. Johnson,
B. Juul-Kristensen,
I. Kapferer-Seebacher,
H. Kazkaz,
T. Kosho,
M. Lavallee,
H. Levy,
R. Mendoza-Londono,
M. Pepin,
F. Pope,
E. Reinstein,
L. Robert,
M. Rohrbach,
Lynn S Sanders,
G. Sobey,
Tim Van Damme,
A. Vandersteen,
C. van Mourik,
N. Voermans,
N. Wheeldon,
J. Zschocke,
B. Tinkle
|
10 |
2017 |
10
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|
|
🐜
|
Ehlers–Danlos syndrome, classical type
7 auth.
J. Bowen,
G. Sobey,
N. Burrows,
M. Colombi,
M. Lavallee,
F. Malfait,
...
C. Francomano
|
7 |
2017 |
7
🐜
|
|
🦁
|
Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests
G. Sobey
|
6 |
2014 |
6
🦁
|
|
🐢
|
De Barsy syndrome: a review of the phenotype
E. Kivuva,
M. Parker,
Marta C. Cohen,
B. Wagner,
G. Sobey
|
5 |
2008 |
5
🐢
|
|
🐬
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Pattern of admissions to a tertiary dermatology unit in South Africa
S. Jessop,
R. McKenzie,
J. Milne,
Solveig E Rapp,
G. Sobey
|
4 |
2002 |
4
🐬
|
|
🐜
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A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
30 auth.
C. Giunta,
M. Baumann,
C. Fauth,
Uschi Lindert,
E. Abdalla,
A. Brady,
J. Collins,
J. Dastgir,
S. Donkervoort,
N. Ghali,
Diana S. Johnson,
A. Kariminejad,
J. Koch,
M. Kraenzlin,
N. Lahiri,
...
B. Lozić,
A. Manzur,
J. Morton,
J. Pilch,
R. Pollitt,
G. Schreiber,
N. Shannon,
G. Sobey,
A. Vandersteen,
F. V. van Dijk,
M. Witsch-Baumgartner,
J. Zschocke,
F. Pope,
C. Bönnemann,
M. Rohrbach
|
4 |
2017 |
4
🐜
|
|
🐜
|
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations
13 auth.
R. Pollitt,
V. Saraff,
A. Dalton,
E. Webb,
N. Shaw,
G. Sobey,
M. Z. Mughal,
E. Hobson,
F. Ali,
N. Bishop,
...
P. Arundel,
W. Högler,
M. Balasubramanian
|
4 |
2016 |
4
🐜
|
|
🐜
|
Enrichment of Rare Variants in Loeys-Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia.
77 auth.
A. Verstraeten,
M. Perik,
A. Baranowska,
J. Meester,
Lotte van den Heuvel,
Jarl Bastianen,
M. Kempers,
I. Krapels,
A. Maas,
A. Rideout,
A. Vandersteen,
G. Sobey,
Diana S. Johnson,
E. Fransen,
N. Ghali,
...
T. Webb,
A. Al-Hussaini,
P. D. de Leeuw,
P. Delmotte,
M. Lopez-sublet,
M. Pappaccogli,
M. Sprynger,
L. Toubiana,
L. Van Laer,
F. V. van Dijk,
M. Vikkula,
N. Samani,
A. Persu,
D. Adlam,
B. Loeys,
C. Beauloye,
P. Chenu,
F. Hammer,
P. Goffette,
P. Astarci,
A. Peeters,
R. Verhelst,
P. van der Niepen,
F. van Tussenbroek,
T. D. de Backer,
S. Gevaert,
D. Hemelsoet,
L. Defreyne,
H. Heuten,
L. Yperzeele,
T. van der Zijden,
Jean-Philippe Lengelé,
J. Krzesinski,
P. Verhamme,
T. Vanassche,
P. Scoppettuolo,
J. Wautrecht,
B. Jelaković,
Ž. Dika,
Rosa Maria Bruno,
S. Taddei,
Caterina Romanini,
Ilaria Petrucci,
F. Rabbia,
S. Di Monaco,
Gian Paolo Rossi,
Silvia Lerco,
P. Minuz,
G. Mansueto,
S. D. De Marchi,
D. Marcon,
Bram Kroon,
W. Spiering,
B. H. van den Born,
E. Poch,
Enrique Montagud-Marrahi,
A. Molina,
E. Guillen,
M. Burrel,
G. Wuerzner,
L. Mazzolai,
G. Buso
|
4 |
2020 |
4
🐜
|
|
🐢
|
Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
12 auth.
J. Bowen,
Monica Hernandez,
Diana S. Johnson,
C. Green,
T. Kammin,
Duncan Baker,
...
S. Keigwin,
Seiko Makino,
Naomi Taylor,
Oliver Watson,
N. Wheeldon,
G. Sobey
|
4 |
2023 |
4
🐢
|
|
🐜
|
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
40 auth.
Mari Minatogawa,
Ai Unzaki,
H. Morisaki,
D. Syx,
T. Sonoda,
A. Janecke,
A. Slavotinek,
N. Voermans,
Y. Lacassie,
R. Mendoza-Londono,
K. Wierenga,
P. Jayakar,
W. Gahl,
C. Tifft,
L. Figuera,
...
Y. Hilhorst-Hofstee,
A. Maugeri,
K. Ishikawa,
Tomoko Kobayashi,
Y. Aoki,
T. Ohura,
H. Kawame,
M. Kono,
K. Mochida,
Chiho Tokorodani,
K. Kikkawa,
T. Morisaki,
Tetsuyuki Kobayashi,
T. Nakane,
A. Kubo,
J. Ranells,
O. Migita,
G. Sobey,
A. Kaur,
M. Ishikawa,
Tomomi Yamaguchi,
N. Matsumoto,
F. Malfait,
N. Miyake,
T. Kosho
|
4 |
2021 |
4
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