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5 research outputs found
Measuring the structural impact of mutations on cytochrome P450 21A2, the major steroid 21-hydroxylase related to congenital adrenal hyperplasia
Author
Forouzanfar K.
Giammona D. A
+3 more
Krieger E.
Pasqualini T.
Vrzalová Z.
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia
Author
A. Levo
D.P. Merke
+19 more
E. Charmandari
F. Baş
F. Sadeghi
J. Sambrook
J.A. Stenson
L. A. Livshits
L.S. Levine
M.I. New
M.L. Ordonez-Sanchez
N. Krone
N.M. Stikkelbroeck
P.W. Speiser
S. Haider
S. Yu. Chernushyn
S.M. Baumgartner-Parzer
S.M. Baumgartner-Parzer
S.Y. Chernushyn
Y. Higashi
Z. Vrzalová
Publication venue
'Allerton Press'
Publication date
Field of study
No full text
Crossref
89Y(γ,xn) reaction cross-section measurements with bremsstrahlung end-point energies of 50–65 MeV
Author
A. Hamdan
A. J. Koning
+30 more
A. Lepretre
A. Tonchev
B. L. Berman
C. F. Weizsacker
E. J. Williams
Guinyun Kim
H. Naik
H. Naik
Haladhara Naik
I. Z. Beseda
J. Blachot
J. S. Hendricks
J. Vrzalová
K. Spohr
Kwangsoo Kim
M. Bielewicz
M. Tatari
M. Zaman
Moo-Hyun Cho
Muhammad Shahid
Muhammad Zaman
R. A. K. Md Lutfor
R. B. Firestone
R. Raut
S. A. Kandil
Sung-Gyun Shin
Sungchul Yang
V. Di Napoli
V. V. Varlamov
V. V. Varlamov
Publication venue
'Korean Physical Society'
Publication date
Field of study
No full text
Crossref
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
Author
A Alibés
A Balsamo
+80 more
A Helmberg
A Khattab
A Nikoshkov
A Wedell
A Wedell
AA Parsa
AL Pey
B Ezquieta
B Haglund-Stengler
B Zhao
BS Nunez
C Cantürk
C Minutolo
CA Blanchong
CD Bruque
CL Worth
CS Kaufman
D El-Maouche
D Kazmi
D L’Allemand
E Carmina
GP Finkielstain
H Falhammar
HH Lee
HH Lee
HH Lee
HH Lee
HH Lee
HH Lee
HH Lee
I Brønstad
I Nermoen
I Sani
J Schalkwijk
JH Choi
JW Werkmeister
L Jiang
L Kirby-Keyser
LP Tsai
LP Tsai
M Barbaro
M Kharrat
M Kharrat
MI New
MT Tusié-Luna
N Krone
N Krone
N Krone
N Krone
NC Hsu
O Lekarev
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
PC White
PC White
PC White
PC White
PF Koppens
PF Koppens
PS Pallan
R Marino
RS Araújo
S Gidlöf
S Haider
S Kleinle
S Menabò
S Parajes
T Robins
T Robins
W Arlt
W Chen
X Chu
Z Vrzalová
Z Yang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
Author
A Asanuma
A Bachelot
+222 more
A Balsamo
A Baradaran-Heravi
A Baradaran-Heravi
A Friães
A Helmberg
A Levo
A Levo
A Levo
A Massimi
A Nikoshkov
A Wedell
A Wedell
A Wedell
A Wedell
A Wedell
A Wedell
AA Parsa
AE Billerbeck
AE Billerbeck
AE Kulle
AF Turcu
B Barbat
B Carvalho
B Ezquieta
B Ezquieta
B Ezquieta
B Ezquieta
B Ezquieta
B Kohn
B Toraman
BL Therell
BL Therell Jr
BS Nunez
C Bernal González
C Bleicken
C Bleicken
C Cantürk
C Deneux
C Minutolo
CA Blanchong
CD Bruque
CJ Mattocks
CN Greene
CS Richards
D De Paula Michelatto
D Kirac
D LʼÀllemand
D Owerbach
DA Wu
DF de Carvalho
DJ Day
DR Zerbino
E Grodnitskaya
E Schulze
E Trakakis
EA Webb
EL Silveira
F Abid
F Paris
FC Soardi
FG Riepe
FG Riepe
G Di Pasquale
G Hong
G Ohlsson
GP Finkielstain
H Falhammar
H Falhammar
H Falhammar
H Falhammar
H Falhammar
H Globerman
H Wang
HH Lee
HH Lee
HH Lee
HJ Zhang
I Brønstad
I Milacic
I Nermoen
IF Lau
J Bojunga
J Fitness
JL Bartha
JL Simpson
JP Schouten
JW Honour
JY Seo
K Unluhizarci
KK Chin
KY Loke
L Dain
L Di Pasquale
L Ghizzoni
L Kirby-Keyser
L Loidi
L Simonetti
LP Tsai
M Amor
M Barbaro
M Barbaro
M Barbaro
M Barbaro
M Bidet
M Bidet
M Janner
M Kanhere
M Kharrat
M New
M Niceta
M Raisingani
M Rauh
M Taboas
M Wasniewska
M Yau
M Yau
MI New
MI New
MK Yu
ML Ordoñez-Sánchez
ML Ordoñez-Sánchez
MS Kim
MS Pollack
MT Tusie-Luna
MT Tusié-Luna
N Janzen
N Katsumata
N Krone
N Krone
N Krone
N Krone
N Krone
N Krone
N Krone
N Skordis
NM Stikkelbroeck
NR Rodrigues
P Balraj
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Concolino
P Sinnott
PC White
PC White
PC White
PC White
PF Koppens
PM Rubtsov
PW Speiser
PW Speiser
PW Speiser
PW Speiser
PW Speiser
PW Speiser
PW Speiser
R Girgis
R Khajuria
R Marino
R Menassa
R Nandagopal
R Wang
RC Wilson
RJ Rijnders
RS Araújo
RS Araújo
RY Patel
S Baumgartner-Parzer
S Dubey
S Dubey
S Gurgov
S Haider
S Kleinle
S Kösel
S Lajic
S Lajic
S Lajic
S Lajić
S Menabo
S Menabò
S Nemeth
S Parajes
S Richards
SD Grosse
SE Plon
SF Chang
SF Witchel
SH Chiou
SM Baumgartner- Parzer
SM Baumgartner- Parzer
SM Baumgartner-Parzer
SM Baumgartner-Parzer
T Robins
T Robins
T Usui
U Ambroziak
V Dolzan
V Dolzan
V Tardy
V Tardy
V Tardy
V Tardy-Guidollet
VT Tardy
VT Tardy
WL Miller
WL Miller
X Chu
X Zeng
Y Grischuk
Y Higashi
Y Higashi
Y Higashi
Y Yu
Z Vrzalová
Z Yang
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref