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1.
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families.
J Med Genet
; 50(2): 91-8, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23339108
2.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
J Med Genet
; 49(4): 227-33, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22499340
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