1
|
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
|
Cell
|
2001
|
11.99
|
2
|
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
|
Am J Hum Genet
|
1996
|
1.89
|
3
|
Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.
|
Am J Hum Genet
|
1993
|
1.16
|
4
|
Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
|
Am J Hum Genet
|
1993
|
1.12
|
5
|
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders.
|
Clin Genet
|
2009
|
0.97
|
6
|
Genotype-phenotype correlation in adult-onset acid maltase deficiency.
|
Ann Neurol
|
1995
|
0.88
|
7
|
Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
|
Hum Genet
|
1993
|
0.82
|