2 research outputs found
Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene
- Author
- A Alibés
- A Balsamo
- 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
EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Author
- A Asanuma
- A Bachelot
- 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