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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
38 auth.
Karin R. Engelhardt,
S. McGhee,
S. Winkler,
A. Sassi,
C. Woellner,
G. López-Herrera,
Andrew Chen,
H. Kim,
M. G. Lloret,
I. Schulze,
S. Ehl,
J. Thiel,
D. Pfeifer,
H. Veelken,
T. Niehues,
...
K. Siepermann,
S. Weinspach,
I. Reisli,
S. Keleş,
F. Genel,
N. Kutukculer,
Y. Camcıoğlu,
A. Somer,
E. Karakoc‐Aydiner,
I. Barlan,
A. Gennery,
A. Metin,
A. Değerliyurt,
M. Pietrogrande,
M. Yeganeh,
Z. Baz,
S. Al-Tamemi,
C. Klein,
J. Puck,
S. Holland,
E. McCabe,
B. Grimbacher,
T. Chatila
|
8 |
2009 |
8
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Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
16 auth.
J. Mitchell,
Praveen G. Paul,
Han-Jou Chen,
A. Morris,
Miles Payling,
M. Falchi,
J. Habgood,
Stefania Panoutsou,
S. Winkler,
V. Tisato,
...
A. Hajitou,
Bradley N. Smith,
C. Vance,
C. Shaw,
N. Mazarakis,
J. de Belleroche
|
7 |
2010 |
7
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|
|
🐜
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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome (vol 124, pg 1289, 2009)
38 auth.
Karin R. Engelhardt,
S. McGhee,
S. Winkler,
A. Sassi,
C. Woellner,
G. López-Herrera,
Andrew Chen,
H. Kim,
M. G. Lloret,
I. Schulze,
S. Ehl,
J. Thiel,
D. Pfeifer,
H. Veelken,
T. Niehues,
...
K. Siepermann,
S. Weinspach,
I. Reisli,
S. Keleş,
F. Genel,
N. Kutuculer,
Y. Camcıoğlu,
A. Somer,
E. Karakoc‐Aydiner,
I. Barlan,
A. Gennery,
A. Metin,
A. Değerliyurt,
M. Pietrogrande,
M. Yeganeh,
Z. Baz,
S. Al-Tamemi,
C. Klein,
J. Puck,
S. Holland,
Erb Mccabe,
B. Grimbacher,
T. Chatila
|
4 |
2010 |
4
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|
|
🐜
|
Exchange of extracellular domains of CCR1 and CCR5 reveals confined functions in CCL5-mediated cell recruitment
8 auth.
B. Kramp,
R. Megens,
A. Sarabi,
S. Winkler,
Delia Projahn,
C. Weber,
...
R. Koenen,
P. von Hundelshausen
|
3 |
2013 |
3
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|
|
🦁
|
PKCγ-Mediated Phosphorylation of CRMP2 Regulates Dendritic Outgrowth in Cerebellar Purkinje Cells
S. Winkler,
Etsuko Shimobayashi,
J. Kapfhammer
|
3 |
2020 |
3
🦁
|
|
🐜
|
Molecular, Serological and Population Studies of the Alleles and Products of HLA-B*41
7 auth.
C. Darke,
S. Winkler,
M. Guttridge,
J. Street,
M. Thomas,
J. Thompson,
...
S. McNamara
|
2 |
1999 |
2
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|
|
🐜
|
DOCK8 Deletions and Mutations Are Associated With The Autosomal Recessive Hyper-IgE Phenotype
25 auth.
S. McGhee,
Karin R. Engelhardt,
S. Winkler,
A. Sassi,
C. Woellner,
G. López-Herrera,
Andrew Chen,
HS Kim,
M. G. Lloret,
I. Schulze,
S. Ehl,
J. Thiel,
D. Pfeifer,
H. Veelken,
T. Niehues,
...
K. Siepermann,
S. Weinspach,
I. Reisli,
S. Keleş,
F. Genel,
N. Kutukculer,
Y. Camcıoğlu,
A. Somer,
E. Karakoc‐Aydiner,
I. Barlan
|
0 |
2010 |
0
🐜
|
|
🐜
|
Thirty-eight of 47 patients with autosomal-recessive hyper-IgE syndrome carry deletions and point mutations in Dock8
55 auth.
Karin R. Engelhardt,
S. McGhee,
S. Winkler,
L. Graham,
A. Sassi,
C. Woellner,
G. López-Herrera,
A. Chen,
H. Kim,
M. G. Lloret,
I. Schulze,
S. Ehl,
J. Thiel,
D. Pfeifer,
H. Veelken,
...
T. Niehues,
K. Siepermann,
S. Weinspach,
I. Reisli,
S. Keleş,
F. Genel,
N. Kutukculer,
Y. Camcıoğlu,
A. Somer,
E. Karakoc‐Aydiner,
I. Barlan,
A. Gennery,
A. Metin,
A. Değerliyurt,
M. Pietrogrande,
M. Yeganeh,
Z. Baz,
S. Al-Tamemi,
C. Klein,
S. Kilic,
A. Plebani,
R. Badolato,
W. Al-Herz,
G. Lefranc,
A. Mégarbané,
Jeannette A. Boutros,
Nermeen M. Galal,
A. E. Marsafi,
L. Schneider,
Douglas R. McDonald,
R. Wakim,
G. Dbaibo,
M. Dasouki,
R. Geha,
P. Arkwright,
J. Puck,
S. Holland,
E. McCabe,
T. Chatila,
B. Grimbacher
|
0 |
2010 |
0
🐜
|
