Kim, Ok‐Hwa
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4

Novel RPL13 Variants and Variable Clinical Expressivity in ..:

Costantini, Alice ; Alm, Jessica J ; Tonelli, Francesca...
Journal of Bone and Mineral Research.  36 (2020)  2 - p. 283-297 , 2020
 
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6

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1:..:

Girisha, Katta M. ; Bhavani, Gandham S. ; Shah, Hitesh...
American Journal of Medical Genetics Part A.  182 (2019)  2 - p. 338-347 , 2019
 
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10

Additional three patients with Smith‐McCort dysplasia due t..:

Salian, Smrithi ; Cho, Tae‐Joon ; Phadke, Shubha R....
American Journal of Medical Genetics Part A.  173 (2017)  3 - p. 588-595 , 2017
 
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13

Confirmation of CAGSSS syndrome as a distinct entity in a D..:

Moosa, Shahida ; Haagerup, Annette ; Gregersen, Pernille Axel...
American Journal of Medical Genetics Part A.  173 (2017)  4 - p. 1102-1108 , 2017
 
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