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4 research outputs found
Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations
Author
A Debost-Legrand
CT Chear
+14Â more
J Valiaho
JA Winkelstein
JK Chun
JM Lindvall
M Vihinen
ME Conley
ME Conley
MI Wahl
NE Harwood
PP Lee
R Perez De Diego
RH Buckley
S Tsukada
XF Chen
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A novel Bruton’s tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia
Author
A Debost-Legrand
AJ Mohamed
+18Â more
B Bayrakci
Bixia Zheng
CT Chear
FA Flinter
Haiguo Yu
J Valiaho
JG Liese
KH Lee
M Vihinen
M Vihinen
PT Mattsson
R Perez De Diego
RW Hendriks
SR Tzeng
WN Khan
Y Wang
Yayuan Zhang
Yu Jin
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Transcriptome profiling of monocytes from XLA patients revealed the innate immune function dysregulation due to the BTK gene expression deficiency
Author
AB Hall
AD Koprulu
+60Â more
AJ Mohamed
AL Amoras
AM Bolger
AW Thomson
B Hrdlickova
C Trapnell
C Xia-Fang
CA Jefferies
CE Griguer
CT Chear
CY McLean
D Kim
D Vetrie
DA Hosack
DJJ Gorter de
F Honda
F Yang
G Dennis
GA Soliman
H Geng
H Mirsafian
H Mirsafian
HD Ochs
J Montojo
J Xu
JA Gomez
K Tano
KG Lee
KJ Livak
KR Alugupalli
L Wan
L Wang
L Zhou
M Ashburner
M Guttman
M Kanehisa
M Manczak
M Pertea
M Vihinen
NJ Horwood
NW Schmidt
O MarÃn-Béjar
P Shannon
R Elling
R Gaujoux
R Johnson
R Keating
S Jebali
S Mukhopadhyay
SA Ezell
SL Doyle
T Finkel
T Weichhart
TL Young
UA Ørom
W Cao
X Tong
XL Fu
Y Bao
ZQ Tu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases
Author
A Aldea
A Brehm
+251Â more
A Giannelou
A Howes
A Kitamura
A Kitamura
A Kubo
A Laberko
A Martin-Nalda
A Mathur
A Mensa-Vilaro
A Omenetti
A Peled
A Slade
A Torrelo
AA de Jesus
AJ Thrasher
AK Agarwal
AK Ombrello
AK Raghawan
AP DeLuca
AP Demidowich
AS Standing
AV Marzano
AV Zavialov
B Lin
B Neven
BC Trindade
BM Fathalla
C Aicart-Ramos
C Barton
C de Torre-Minguela
C Grossman
C Gruber
C Louvrier
C Ma
C McDonald
C Picard
C Walliser
C Weinert
CA Wise
CB Levandowski
CD Rose
CF Sandall
CH Yu
CM Volker-Touw
CN Castro
CN Gruber
CT Chear
CT Jordan
CT Jordan
D Cuchet-Lourenço
D Fuchs-Telem
D Holzinger
D Holzinger
D Lasiglie
DA Muruve
DB Beck
DB Beck
DB Kuhns
DH Wiseman
DJ Philpott
DL Burdette
DM Rowczenio
DM Rowczenio
DM Rowczenio
DM Rowczenio
DR Booth
E Assrawi
E Belelli
E Moran-Villasenor
E Van Nuffel
F De Benedetti
F Ebstein
F Martinon
F Moghaddas
F Moghaddas
FL Zhong
G Fenini
G Frans
G Guarda
G Sarrabay
GAM Sanchez
H Hashem
H Hashem
H Konno
H Nakanishi
H Ozdogan
H Park
H Sharif
H Van Gorp
H Xu
HD de Koning
HJ Lachmann
HJ Lachmann
I Brigida
I Jeru
I Jeru
I Jéru
I Kone-Paut
I Melki
I Meyts
I Okafuji
I Rauch
I Stoler
J Chavarria-Smith
J Dahlqvist
J de Inocencio
J Frenkel
J Frenkel
J Hu
J Liang
J Seo
JA Duncan
JA Kummer
JA Turunen
JB Kuemmerle-Deschner
JD Milner
JE Wilusz
JF Cote
JF Neves
JL Goldstein
JL Harden
JL Poyet
JN Finger
JW Yu
K Arima
K Badour
K Manthiram
K Schroder
K Sugiura
L Bastarache
L Gusdorf
L Israel
LB Rosen
LH Travassos
LM Booshehri
LO Randzavola
LR Hollingsworth
M Ammar
M Cugno
M Gattorno
M Hu
M Leibovitch
M Saito
M Stoffels
MC Maggio
MC Poli
MG Netea
MJ Ombrello
MK Akula
ML Fremond
ML Fremond
MP Rodero
MT Lam
N Jeremiah
N Kanazawa
N Konig
N Lalaoui
N Romberg
N Saito
N Tanaka
N Tidow
N Toplak
NF Magitta
NG Shoham
NM Ter Haar
O Eytan
O Gutierrez
O Schnappauf
OP Skinner
P Dai
P Mistry
P Navon Elkan
P Tao
PK Chakraborty
PY Lee
PY Lee
Q Li
Q Yao
Q Zhou
Q Zhou
Q Zhou
R Goldbach-Mansky
R Koshy
R Papa
RE Vance
RG Saldanha
S Alehashemi
S Bauernfried
S Feng
S Grandemange
S He
S Hull
S Iwaki-Egawa
S Kataoka
S Keskitalo
S Maekawa
S Martinelli
S Mostowy
S Murata
S Savic
S Takada
S Taniuchi
S Volpi
SA Cook
SB Drutman
SG Tangye
SH Mandey
SL Ergun
SL Masters
SL Masters
SM Houten
SM Houten
SQ Zhang
SW Canna
SW Canna
T Fernandes-Alnemri
T Herlin
T Matsubayashi
T Nagaike
T Takenawa
T Zeeli
TA Packard
TM Liu
TW Starnes
TY Prudnikova
UniProt Consortium
V Koronakis
V Kumar
V Lougaris
VJ Soler
W Gao
W Strober
WH Kahr
WJM Janssen
X Calderon-Castrat
Y Gernez
Y Honda
Y Hong
Y Jamilloux
Y Jin
Y Kawasaki
Y Li
Y Liu
Y Liu
Y Meng
Y Qu
Y Tanaka
Y Wedatilake
YH Park
YH Park
Z Hu
Publication venue
'Springer Science and Business Media LLC'
Publication date
25/05/2021
Field of study
No full text
Crossref
pub H-BRS - Publikationsserver der Hochschule Bonn-Rhein-Sieg