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1.
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
J Med Genet
; 55(6): 422-429, 2018 Jun.
Article
in English
| MEDLINE | ID: mdl-29459493
2.
The new platelet alloantigen Cab a: a single point mutation Gln 716 His on the alpha 2 integrin.
Transfusion
; 49(10): 2076-83, 2009 Oct.
Article
in English
| MEDLINE | ID: mdl-19500323
3.
Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency.
Eur J Med Genet
; 56(11): 635-41, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24013099
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