|
1
|
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
|
Arthritis Rheum
|
2003
|
1.51
|
|
2
|
Bleeding in carriers of hemophilia.
|
Blood
|
2006
|
1.41
|
|
3
|
Variant chronic infantile neurologic, cutaneous, articular syndrome due to a mutation within the leucine-rich repeat domain of CIAS1.
|
Arthritis Rheum
|
2004
|
1.36
|
|
4
|
Gene-network analysis identifies susceptibility genes related to glycobiology in autism.
|
PLoS One
|
2009
|
1.23
|
|
5
|
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
|
Neurogenetics
|
2011
|
1.21
|
|
6
|
[Stuttering: effects of genes and early treatment].
|
Ned Tijdschr Geneeskd
|
2011
|
0.77
|
|
7
|
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.
|
Am J Med Genet A
|
2009
|
0.75
|
|
8
|
Novel type of red blood cell pyruvate kinase hyperactivity predicts a remote regulatory locus involved in PKLR gene expression.
|
Am J Hematol
|
2014
|
0.75
|