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6 research outputs found
Klinische Charakterisierung und Mutationsspektrum deutscher Patienten mit familiärer Hypercholesterinämie
Author
Grenkowitz T.
Publication venue
Publication date
01/01/2017
Field of study
No full text
MPG.PuRe
Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia
Author
Binner P.
Borucki K.
+15 more
Demuth I.
Grenkowitz T.
Heigl F.
Hopfenmüller W.
Isermann B.
Kassner U.
Kleber M.
Laufs U.
März W.
Rosada A.
Salewsky B.
Steinhagen-Thiessen E.
Wagner S.
Wühle-Demuth M.
Zemojtel T.
Publication venue
'Elsevier BV'
Publication date
01/01/2016
Field of study
No full text
MPG.PuRe
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
Author
A Benito-Vicente
A Catapano
+38 more
A Etxebarria
A Taylor
AC Alves
AC Alves
Ana Catarina Alves
Ana Margarida Medeiros
AV Khera
BG Nordestgaard
CE Jannes
FO Desmet
G Vaca
G Yeo
H Hattori
Hobbs
IA Adzhubei
J Cameron
JM Schwarz
Joana Rita Chora
KK Alharbi
L Villéger
M Bourbon
M Marduel
M Wildeman
Mafalda Bourbon
MG Reese
P Mozas
PC Ng
PD Stenson
R Henderson
RD Santos
RD Santos
S Leigh
S Richards
S Silva
SW Fouchier
T Fasano
T Grenkowitz
Y Choi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Evaluation of the role of STAP1 in Familial Hypercholesterolemia
Author
A Pirillo
B Sjouke
+34 more
BG Nordestgaard
C Pattaro
CK Garcia
D Damgaard
D Gerstorf
EF Fahy
ER Eden
EW Tobi
F Blanco-Vaca
F Civeira
HP Thomas
Ivan A Adzhubei
J Genest
JC Defesche
JL Goldstein
K Ohya
L Bertram
LA Lange
LF Soria
M Abifadel
M Benn
M Futema
M Paquette
M Solanas-Barca
MS Brown
NO Stitziel
PJ Norsworthy
PJ Talmud
R Do
SW Fouchier
T Grenkowitz
TL Innerarity
TM Teslovich
Z Awan
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Genetic Architecture of Familial Hypercholesterolaemia
Author
A Taylor
AV Khera
+55 more
B Sjouke
BG Nordestgaard
D Vilades Medel
Devaki Nair
DM Kusters
DS Wald
E Jarauta
E Usifo
ER Thomas
F Civeira
HA Neil
HH Hobbs
J Besseling
J Ferrieres
JA Fernandez-Higuero
JP Rabes
JS Hill
K Haralambos
KNL DeMott
LA Lange
M Benn
M Benn
M Cuchel
M Futema
M Futema
M Marduel
M Sharifi
M Sharifi
MA Austin
Mahtab Sharifi
Marta Futema
NB Myant
NB Myant
NO Stitziel
P Michaely
PJ Talmud
PJ Talmud
R Do
R Mehta
RD Santos
RP Naoumova
RR Williams
S Leigh
S Rafeiyian
SE Humphries
SE Humphries
SE Humphries
SG Hadfield
SH Chen
Steve E. Humphries
T Grenkowitz
TA Lagace
TM Teslovich
UK Consortium
Z Zhao
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Genetic basis of index patients with familial hypercholesterolemia in Chinese population: mutation spectrum and genotype-phenotype correlation
Author
A Amor-Salamanca
A Goldberg
+50 more
B Sjouke
B Sjouke
BG Nordestgaard
Bing-Yang Zhou
C Jannes
Cheng-Gang Zhu
Chuan-Jue Cui
Di Sun
DM Kusters
EA Brinton
FJ Raal
Geng Liu
I Ruel
J Boren
J Gent
Jian-Jun Li
KR Chiou
KR Chiou
L Jiang
L Tichy
M Benn
M Cuchel
M Hu
M Junyent
M Kwon
M Marduel
M Sharifi
Na-Qiong Wu
Ning-Ling Sun
PC Santos
Qi Hua
R Alonso
R Durst
R Spina
R Xiang
RD Santos
RM Sanchez-Hernandez
S Fouchier
S Leigh
SH Lye
Sha Li
Shu-Lin Wu
SLT Pek
T Grenkowitz
V Bañares
V Gudnason
V Mollaki
Ying Gao
Yuan-Lin Guo
Yun-Shan Cao
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref