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Research |
Expanding the phenome and variome of skeletal dysplasia
- Sateesh Maddirevula
- , Saud Alsahli
- , Lamees Alhabeeb
- , Nisha Patel
- , Fatema Alzahrani
- , Hanan E Shamseldin
- , Shams Anazi
- , Nour Ewida
- , Hessa S Alsaif
- , Jawahir Y Mohamed
- , Anas M Alazami
- , Niema Ibrahim
- , Firdous Abdulwahab
- , Mais Hashem
- , Mohamed Abouelhoda
- , Dorota Monies
- , Nada Al Tassan
- , Muneera Alshammari
- , Afaf Alsagheir
- , Mohammed Zain Seidahmed
- , Samira Sogati
- , Mona S Aglan
- , Muddathir H Hamad
- , Mustafa A Salih
- , Ahlam A Hamed
- , Nadia Alhashmi
- , Amira Nabil
- , Fatima Alfadli
- , Ghada M H Abdel-Salam
- , Hisham Alkuraya
- , Winnie Ong Peitee
- , W T Keng
- , Abdullah Qasem
- , Aziza M Mushiba
- , Maha S Zaki
- , Mahmoud R Fassad
- , Majid Alfadhel
- , Saji Alexander
- , Yasser Sabr
- , Samia Temtamy
- , Alka V Ekbote
- , Samira Ismail
- , Gamal Ahmed Hosny
- , Ghada A Otaify
- , Khalda Amr
- , Saeed Al Tala
- , Arif O Khan
- , Tamer Rizk
- , Aida Alaqeel
- , Abdulmonem Alsiddiky
- , Ankur Singh
- , Seema Kapoor
- , Amal Alhashem
- , Eissa Faqeih
- , Ranad Shaheen
- & Fowzan S Alkuraya
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Research | | Open
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
- Chiara Olcese
- , Mitali P. Patel
- , Amelia Shoemark
- , Santeri Kiviluoto
- , Marie Legendre
- , Hywel J. Williams
- , Cara K. Vaughan
- , Jane Hayward
- , Alice Goldenberg
- , Richard D. Emes
- , Mustafa M. Munye
- , Laura Dyer
- , Thomas Cahill
- , Jeremy Bevillard
- , Corinne Gehrig
- , Michel Guipponi
- , Sandra Chantot
- , Philippe Duquesnoy
- , Lucie Thomas
- , Ludovic Jeanson
- , Bruno Copin
- , Aline Tamalet
- , Christel Thauvin-Robinet
- , Jean- François Papon
- , Antoine Garin
- , Isabelle Pin
- , Gabriella Vera
- , Paul Aurora
- , Mahmoud R. Fassad
- , Lucy Jenkins
- , Christopher Boustred
- , Thomas Cullup
- , Mellisa Dixon
- , Alexandros Onoufriadis
- , Andrew Bush
- , Eddie M. K. Chung
- , Stylianos E. Antonarakis
- , Michael R. Loebinger
- , Robert Wilson
- , Miguel Armengot
- , Estelle Escudier
- , Claire Hogg
- , Saeed Al-Turki
- , Carl Anderson
- , Dinu Antony
- , Inês Barroso
- , Philip L. Beales
- , Jamie Bentham
- , Shoumo Bhattacharya
- , Keren Carss
- , Krishna Chatterjee
- , Sebahattin Cirak
- , Catherine Cosgrove
- , Daly Allan
- , Richard Durbin
- , David Fitzpatrick
- , Jamie Floyd
- , A. Reghan Foley
- , Chris Franklin
- , Marta Futema
- , Steve E. Humphries
- , Matt Hurles
- , Shane McCarthy
- , Dawn Muddyman
- , Francesco Muntoni
- , Victoria Parker
- , Felicity Payne
- , Vincent Plagnol
- , Lucy Raymond
- , David B. Savage
- , Peter J. Scambler
- , Miriam Schmidts
- , Robert Semple
- , Eva Serra
- , Jim Stalker
- , Margriet van Kogelenberg
- , Parthiban Vijayarangakannan
- , Klaudia Walter
- , Serge Amselem
- , Zhaoxia Sun
- , Lucia Bartoloni
- , Jean-Louis Blouin
- & Hannah M. Mitchison
