1
|
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
|
Am J Med Genet
|
2002
|
1.39
|
2
|
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
|
Orphanet J Rare Dis
|
2013
|
1.13
|
3
|
The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease.
|
Neurogenetics
|
2005
|
1.06
|
4
|
Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease.
|
Hum Genet
|
2006
|
1.00
|
5
|
Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.
|
Eur J Hum Genet
|
2010
|
0.97
|
6
|
Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.
|
BMC Med Genet
|
2009
|
0.84
|
7
|
Communicating BRCA1 and BRCA2 genetic test results.
|
J Clin Oncol
|
2006
|
0.83
|