| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
|
Janssens, A. Cecile J.W.
|
|
2008
|
82 |
3 |
p. 593-599
7 p.
|
artikel
|
| 2 |
ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency
|
Lagier-Tourenne, Clotilde
|
|
2008
|
82 |
3 |
p. 661-672
12 p.
|
artikel
|
| 3 |
Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
|
Berkovic, Samuel F.
|
|
2008
|
82 |
3 |
p. 673-684
12 p.
|
artikel
|
| 4 |
Association of the Asporin D14 Allele with Lumbar-Disc Degeneration in Asians
|
Song, You-Qiang
|
|
2008
|
82 |
3 |
p. 744-747
4 p.
|
artikel
|
| 5 |
CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures
|
Mollet, Julie
|
|
2008
|
82 |
3 |
p. 623-630
8 p.
|
artikel
|
| 6 |
Call for Patients, Calls for Research Proposals, and Employment Opportunities
|
|
|
2008
|
82 |
3 |
p. 802-804
3 p.
|
artikel
|
| 7 |
Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project
|
Higgins, Anne W.
|
|
2008
|
82 |
3 |
p. 712-722
11 p.
|
artikel
|
| 8 |
Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia
|
Tan, Jacqueline T.
|
|
2008
|
82 |
3 |
p. 786-793
8 p.
|
artikel
|
| 9 |
Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis
|
Mill, Jonathan
|
|
2008
|
82 |
3 |
p. 696-711
16 p.
|
artikel
|
| 10 |
Estimating Ethnic Admixture from Pedigree Data
|
Sinsheimer, Janet S.
|
|
2008
|
82 |
3 |
p. 748-755
8 p.
|
artikel
|
| 11 |
Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations
|
Zhang, Wei
|
|
2008
|
82 |
3 |
p. 631-640
10 p.
|
artikel
|
| 12 |
Genetic Flip-Flop without an Accompanying Change in Linkage Disequilibrium
|
Zaykin, Dmitri V.
|
|
2008
|
82 |
3 |
p. 794-796
3 p.
|
artikel
|
| 13 |
Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23
|
Everett, Kate V.
|
|
2008
|
82 |
3 |
p. 756-762
7 p.
|
artikel
|
| 14 |
Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26
|
Hillmer, Axel M.
|
|
2008
|
82 |
3 |
p. 737-743
7 p.
|
artikel
|
| 15 |
Human RFT1 Deficiency Leads to a Disorder of N-Linked Glycosylation
|
Haeuptle, Micha A.
|
|
2008
|
82 |
3 |
p. 600-606
7 p.
|
artikel
|
| 16 |
Identification of Susceptibility Genes for Cancer in a Genome-wide Scan: Results from the Colon Neoplasia Sibling Study
|
Daley, Denise
|
|
2008
|
82 |
3 |
p. 723-736
14 p.
|
artikel
|
| 17 |
Mitochondrial Population Genomics Supports a Single Pre-Clovis Origin with a Coastal Route for the Peopling of the Americas
|
Fagundes, Nelson J.R.
|
|
2008
|
82 |
3 |
p. 583-592
10 p.
|
artikel
|
| 18 |
Multipoint Approximations of Identity-by-Descent Probabilities for Accurate Linkage Analysis of Distantly Related Individuals
|
Albers, Cornelis A.
|
|
2008
|
82 |
3 |
p. 607-622
16 p.
|
artikel
|
| 19 |
Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria
|
Kloeckener-Gruissem, Barbara
|
|
2008
|
82 |
3 |
p. 772-779
8 p.
|
artikel
|
| 20 |
Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
|
Rainier, Shirley
|
|
2008
|
82 |
3 |
p. 780-785
6 p.
|
artikel
|
| 21 |
Optimal Two-Stage Testing for Family-Based Genome-wide Association Studies
|
Macgregor, Stuart
|
|
2008
|
82 |
3 |
p. 797-799
3 p.
|
artikel
|
| 22 |
Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles
|
Bruder, Carl E.G.
|
|
2008
|
82 |
3 |
p. 763-771
9 p.
|
artikel
|
| 23 |
Response to Macgregor
|
Ionita-Laza, Iuliana
|
|
2008
|
82 |
3 |
p. 799-800
2 p.
|
artikel
|
| 24 |
Response to Zaykin and Shibata
|
Lin, Ping-I
|
|
2008
|
82 |
3 |
p. 796-797
2 p.
|
artikel
|
| 25 |
Robust Score Statistics for QTL Linkage Analysis
|
Bhattacharjee, Samsiddhi
|
|
2008
|
82 |
3 |
p. 567-582
16 p.
|
artikel
|
| 26 |
Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance
|
Mochel, Fanny
|
|
2008
|
82 |
3 |
p. 652-660
9 p.
|
artikel
|
| 27 |
The Fine-Scale and Complex Architecture of Human Copy-Number Variation
|
Perry, George H.
|
|
2008
|
82 |
3 |
p. 685-695
11 p.
|
artikel
|
| 28 |
The Involvement of DNA-Damage and -Repair Defects in Neurological Dysfunction
|
Kulkarni, Avanti
|
|
2008
|
82 |
3 |
p. 539-566
28 p.
|
artikel
|
| 29 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2008
|
82 |
3 |
p. 537-538
2 p.
|
artikel
|
| 30 |
This Month in the Journal
|
Williamson, Robin E.
|
|
2008
|
82 |
3 |
p. 535-536
2 p.
|
artikel
|
| 31 |
Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene
|
Kayser, Manfred
|
|
2008
|
82 |
3 |
p. 801-
1 p.
|
artikel
|
| 32 |
Using the Optimal Receiver Operating Characteristic Curve to Design a Predictive Genetic Test, Exemplified with Type 2 Diabetes
|
Lu, Qing
|
|
2008
|
82 |
3 |
p. 641-651
11 p.
|
artikel
|
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