-
Campos-Xavier, AB, Martinet, D, Bateman, J, Belluoccio, D, Rowley, L, Tan, TY, Baxová, A, Gustavson, K-H, Borochowitz, ZU, Innes, AM, et al.
Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia.
American Journal of Human Genetics
84(6)
:
760 -770
2009
view publication
-
Perdu, B, De Freitas, F, Frints, S, Schouten, M, Schrander-Stumpel, C, Barbosa, M, Pinto-Basto, J, Reis-Lima, M, de Vernejoul, M, Becker, K, et al.
Osteopathia striata with cranial sclerosis due to mutations in the WTX gene.
Bone
44:
s233
2009
view publication
-
Yeung, A, Amor, D, Savarirayan, R.
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome.
American Journal of Medical Genetics Part A
149A(4)
:
767 -769
2009
view publication
-
Bruno, DL, Ganesamoorthy, D, Schoumans, J, Bankier, A, Coman, D, Delatycki, M, Gardner, RJM, Hunter, M, James, PA, Kannu, P, et al.
Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.
Journal of Medical Genetics
46(2)
:
123
2009
view publication
-
Kannu, P, Bateman, JF, Belluoccio, D, Fosang, AJ, Savarirayan, R.
Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.
Arthritis & Rheumatism
60(2)
:
325 -334
2009
view publication