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1.
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene.
J Hum Genet
; 62(12): 1057-1063, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28878337
2.
Treosulfan-fludarabine-thiotepa conditioning before allogeneic haemopoietic stem cell transplantation for patients with advanced lympho-proliferative disease. A single centre study.
Hematol Oncol
; 34(1): 17-21, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25626861
3.
Reproducibility of liver iron concentration measured on a biopsy sample: a validation study in vivo.
Am J Hematol
; 90(2): 87-90, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25345839
4.
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Hum Mutat
; 32(12): 1460-9, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21905166
5.
Biosimilars G-CSF versus originator G-CSF in post allotransplant recovery. A case-control study.
Am J Hematol
; 91(2): E7-8, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26596244
6.
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
J Inherit Metab Dis
; 33 Suppl 3: S91-4, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20157782
7.
The apoptotic machinery as a biological complex system: analysis of its omics and evolution, identification of candidate genes for fourteen major types of cancer, and experimental validation in CML and neuroblastoma.
BMC Med Genomics
; 2: 20, 2009 Apr 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-19402918
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