3 research outputs found
CYP21 mutations in simple virilizing congenital adrenal hyperplasia
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2001
- 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
Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Author
- A Bachelot
- A Bachelot
- A Bachelot
- A Bachelot
- A Balsamo
- A Baradaran-Heravi
- A Casteràs
- A Grigorescu Sido
- A Nordenskjold
- A Nordenstrom
- A Nordenström
- A Strandqvist
- A Tsuji
- A Wedell
- AM Al Alawi
- B Dudzińska
- B Ezquieta
- B Ezquieta
- B Lenz
- B McCann-Crosby
- B Zhang
- B Zhao
- C Binay
- C Bouvattier
- C Dacou-Voutetakis
- C Kamrath
- C Kenaan
- C Minutolo
- CE Fardella
- CE Seraphim
- CF Mooij
- D El-Maouche
- D El-Maouche
- D Macut
- D Pignatelli
- D Pignatelli
- DD Martin
- DF de Carvalho
- E Carmina
- E Daae
- E Marumudi
- E Mornet
- E Pussard
- E Schulze
- E Trakakis
- E Whittle
- F Baş
- F Ceccato
- F Gastaud
- F Hannah-Shmouni
- G Hargitai
- G Ohlsson
- G Papadakis
- G Pinto
- G Robin
- GP Finkielstain
- H Engberg
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Falhammar
- H Frisch
- Henrik Falhammar
- HF Meyer-Bahlburg
- HJ Zhang
- HL Claahsen-van der Grinten
- I Bacila
- I Manoli
- I Milacic
- I Nermoen
- J Jaaskelainen
- J Jääskeläinen
- J Słowikowska-Hilczer
- JB Armengaud
- JC Lo
- JH Choi
- JW Honour
- K Ariyawatkul
- K Bulsari
- K Hagenfeldt
- K Kashimada
- K Kotaska
- KA Walters
- KK Dumic
- L de Vries
- L Juan
- L Karlsson
- L Paizoni
- L Simonetti
- L Trinh
- LC Kaupert
- LG Gomes
- LT Zeng
- M Barbaro
- M Bidet
- M Bidet
- M Delvecchio
- M Dracopoulou-Vabouli
- M Engels
- M Kharrat
- M Kocova
- M Kocova
- M Pall
- M Tankoska
- MA Alwashih
- MH Schernthaner-Reiter
- MI New
- MI New
- MI New
- Mirjana Kocova
- ML Narasimhan
- ML Ordoñez-Sánchez
- MM Alswailem
- MS Kim
- MT Tusie-Luna
- N Krone
- N Reisch
- N Reisch
- N Weintrob
- NM Stikkelbroeck
- NM Stikkelbroeck
- NM Stikkelbroeck
- O Lekarev
- P Bretones
- P Carrera
- P Christiansen
- P Concolino
- P Sartorato
- PA Lee
- PC White
- PC White
- PC White
- PC White
- PC White
- PS Pallan
- PW Speiser
- R Marino
- R Wang
- RC Wilson
- RJ Auchus
- RM Mulaikal
- RM Williams
- RS Araujo
- S Gidlöf
- S Gidlöf
- S Gurgov
- S Haider
- S Lajić
- S Livadas
- SC Mueller
- SF Witchel
- SF Witchel
- SF Witchel
- SY Pang
- T Ishii
- T Robins
- TA Bachega
- TC van de Grift
- TD Nebesio
- TF King
- TM Völkl
- V Anastasovska
- V Anastasovska
- V Anastasovska
- V Dolzan
- V Tardy
- Violeta Anastasovska
- VO Moura-Massari
- W Bonfig
- W Hoepffner
- WL Miller
- Y Higashi
- Y Yabusaki
- Z Antal
- Z Aycan
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study