|
1
|
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
|
Blood
|
2011
|
2.29
|
|
2
|
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
|
Am J Hum Genet
|
2011
|
1.37
|
|
3
|
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation).
|
Haematologica
|
2011
|
1.02
|
|
4
|
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
|
Orphanet J Rare Dis
|
2011
|
0.86
|
|
5
|
Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
|
Haematologica
|
2009
|
0.83
|
|
6
|
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
|
Haematologica
|
2013
|
0.81
|
|
7
|
HNF-1β mutation affects PKD2 and SOCS3 expression causing renal cysts and diabetes in MODY5 kindred.
|
J Nephrol
|
2013
|
0.78
|
|
8
|
LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.
|
BMC Med Genet
|
2014
|
0.77
|