|
1
|
Defibrotide in the treatment of children with veno-occlusive disease (VOD): a retrospective multicentre study demonstrates therapeutic efficacy upon early intervention.
|
Bone Marrow Transplant
|
2004
|
1.84
|
|
2
|
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.
|
Clin Immunol
|
2013
|
1.26
|
|
3
|
Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).
|
Hum Mol Genet
|
1999
|
1.04
|
|
4
|
Molecular genetic identification of families with juvenile nephronophthisis type 1: rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
|
Kidney Int
|
1997
|
1.02
|
|
5
|
A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?
|
Leukemia
|
2009
|
0.97
|
|
6
|
Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. APN Study Group. Arbeitsgemeinschaft für Pädiatrische Nephrologie.
|
Pediatr Nephrol
|
1998
|
0.93
|
|
7
|
Late occurrence of cysts in autosomal dominant medullary cystic kidney disease.
|
Nephrol Dial Transplant
|
1997
|
0.86
|
|
8
|
Glomerulopathy associated with predominant fibronectin deposits: exclusion of the genes for fibronectin, villin and desmin as causative genes.
|
Am J Med Genet
|
1996
|
0.86
|
|
9
|
Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome.
|
Pediatr Nephrol
|
1998
|
0.85
|
|
10
|
Allo-SCT using BU, CY and melphalan for children with AML in second CR.
|
Bone Marrow Transplant
|
2012
|
0.85
|
|
11
|
Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia.
|
Leukemia
|
2007
|
0.84
|
|
12
|
Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation.
|
Leukemia
|
2007
|
0.84
|
|
13
|
Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 7 Mb on chromosome 2q13.
|
Cytogenet Cell Genet
|
1996
|
0.80
|
|
14
|
Molecular cloning of the interleukin-1 gene cluster: construction of an integrated YAC/PAC contig and a partial transcriptional map in the region of chromosome 2q13.
|
Genomics
|
1997
|
0.80
|
|
15
|
Direct transforming activity of TGF-beta on rat fibroblasts.
|
Int J Cancer
|
1995
|
0.75
|
|
16
|
Successful Allogenic Haematopoietic Stem Cell Transplantation in a Boy with Hemophilia A and MDS-RAEB.
|
Klin Padiatr
|
2016
|
0.75
|
|
17
|
Successful double umbilical cord blood transplantation for relapsed juvenile myelomonocytic leukemia.
|
Leukemia
|
2012
|
0.75
|