Coppens, Sandra
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11

Ehlers‐Danlos/myopathy overlap syndrome caused by a large d..:

Coppens, Sandra ; Desmyter, Laurence ; Koch, Manuel...
American Journal of Medical Genetics Part A.  188 (2022)  5 - p. 1556-1561 , 2022
 
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15

Novel homozygous variant of carbonic anhydrase 8 gene expan..:

Paternoster, Lionel ; Soblet, Julie ; Aeby, Alec...
American Journal of Medical Genetics Part A.  182 (2020)  11 - p. 2685-2693 , 2020
 
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