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4. A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking
作者:Adila Al-Kindi (1)
Praseetha Kizhakkedath (2)
Huifang Xu (3)
Anne John (2)
Abeer Al Sayegh (1)
Anuradha Ganesh (4)
Maha Al-Awadi (1)
Lamya Al-Anbouri (1)
Lihadh Al-Gazali (5)
Birgit Leitinger (3)
Bassam R Ali (2)

1. Department of Genetics
; Sultan Qaboos University Hospital ; Sultan Qaboos University ; Al koudh ; 123 ; Muscat Sultanate of Oman
2. Department of Pathology
; College of Medicine and Heath Sciences ; United Arab Emirates University ; P.O. Box 17666 ; Al Ain ; United Arab Emirates
3. National Heart and Lung Institute
; Imperial College London ; London ; SW7 2AZ ; United Kingdom
4. Pediatric Ophthalmology
; Sultan Qaboos University Hospital ; Sultan Qaboos University ; Alkoudh ; 123 ; Muscat ; Sultanate of Oman
5. Department of Paediatrics
; College of Medicine and Heath Sciences ; United Arab Emirates University ; Al Ain ; United Arab Emirates
刊名:BMC Medical Genetics
出版年:2014
6. Metastability and instability in holographic gauge theories
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