| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Cholesteryl ester transfer protein gene mutations in Brazilian hyperalphalipoproteinemia
|
|
|
2006
|
69 |
5 |
p. 455-457
|
article
|
| 2 |
Expanding the phenotypic spectrum of L1CAM-associated disease
|
Basel-Vanagaite, L
|
|
2006
|
69 |
5 |
p. 414-419
|
article
|
| 3 |
Genetic architecture of the F7 gene in a Spanish population: implication for mapping complex diseases and for functional assays
|
Sabater-Lleal, M
|
|
2006
|
69 |
5 |
p. 420-428
|
article
|
| 4 |
Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy
|
|
|
2006
|
69 |
5 |
p. 434-436
|
article
|
| 5 |
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities
|
|
|
2006
|
69 |
5 |
p. 441-443
|
article
|
| 6 |
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2
|
Seeman, P
|
|
2006
|
69 |
5 |
p. 410-413
|
article
|
| 7 |
Letter to the Editor in response to Duncan RE and Delatycki MB. Predictive genetic testing in young people for adult-onset conditions: Where is the empirical evidence?′
|
|
|
2006
|
69 |
5 |
p. 450-451
|
article
|
| 8 |
Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families
|
|
|
2006
|
69 |
5 |
p. 437-440
|
article
|
| 9 |
Loss of function mutations in SIL1 cause Marinesco–Sjögren syndrome
|
Van Raamsdonk, JM
|
|
2006
|
69 |
5 |
p. 399-400
|
article
|
| 10 |
Non-syndromic, autosomal-recessive deafness
|
Petersen, MB
|
|
2006
|
69 |
5 |
p. 371-392
|
article
|
| 11 |
Novel germline mutations in the APC gene of Cypriot patients with familial and sporadic adenomatous polyposis
|
Hadjisavvas, A
|
|
2006
|
69 |
5 |
p. 404-409
|
article
|
| 12 |
Screening of the CAPN3 gene in patients with possible LGMD2A
|
|
|
2006
|
69 |
5 |
p. 444-449
|
article
|
| 13 |
The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23
|
Ali, G
|
|
2006
|
69 |
5 |
p. 429-433
|
article
|
| 14 |
Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research
|
Kaphingst, KA
|
|
2006
|
69 |
5 |
p. 393-398
|
article
|
Journal description