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ROBERTSON, SP, SHEARS, DJ, OEI, P, WINTER, RM, SCAMBLER, PJ, AFTIMOS, S, SAVARIRAYAN, R.
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia.
Journal of Medical Genetics
37(12)
:
959
2000
view publication
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Savarirayan, R, Cormier‐Daire, V, Unger, S, Lachman, RS, Roughley, PJ, Wagner, SF, Rimoin, DL, Wilcox, WR.
Oto‐palato‐digital syndrome, type II: Report of three cases with further delineation of the chondro‐osseous morphology.
American Journal of Medical Genetics
95(3)
:
193 -200
2000
view publication
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Savarirayan, R, Cormier‐Daire, V, Curry, CJ, Nashelsky, MB, Rappaport, V, Rimoin, DL, Lachman, RS.
New mesomelic dysplasia with absent fibulae and triangular tibiae.
American Journal of Medical Genetics
94(1)
:
59 -63
2000
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Amor, DJ, Savarirayan, R, Schneider, AS, Bankier, A.
New case of Cole‐Carpenter syndrome.
American Journal of Medical Genetics
92(4)
:
273 -277
2000
view publication
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Savarirayan, R, Cormier-Daire, V, Lachman, RS, Rimoin, DL.
Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type.
Pediatric Radiology
30(7)
:
460 -463
2000
view publication