| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
|
Riazuddin, S. Amer
|
|
2010
|
86 |
5 |
p. 805-812
8 p.
|
artikel
|
| 2 |
A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss
|
Sırmacı, Aslı
|
|
2010
|
86 |
5 |
p. 797-804
8 p.
|
artikel
|
| 3 |
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
|
Miller, David T.
|
|
2010
|
86 |
5 |
p. 749-764
16 p.
|
artikel
|
| 4 |
Detecting Coevolution through Allelic Association between Physically Unlinked Loci
|
Rohlfs, Rori V.
|
|
2010
|
86 |
5 |
p. 674-685
12 p.
|
artikel
|
| 5 |
Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
|
Nishimura, Darryl Y.
|
|
2010
|
86 |
5 |
p. 686-695
10 p.
|
artikel
|
| 6 |
Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
|
Uz, Elif
|
|
2010
|
86 |
5 |
p. 789-796
8 p.
|
artikel
|
| 7 |
Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood
|
Widén, Elisabeth
|
|
2010
|
86 |
5 |
p. 773-782
10 p.
|
artikel
|
| 8 |
Gene Expression and Genetic Variation in Response to Endoplasmic Reticulum Stress in Human Cells
|
Dombroski, Beth A.
|
|
2010
|
86 |
5 |
p. 719-729
11 p.
|
artikel
|
| 9 |
Inferring Genetic Ancestry: Opportunities, Challenges, and Implications
|
Royal, Charmaine D.
|
|
2010
|
86 |
5 |
p. 661-673
13 p.
|
artikel
|
| 10 |
Interpretation of Association Signals and Identification of Causal Variants from Genome-wide Association Studies
|
Wang, Kai
|
|
2010
|
86 |
5 |
p. 730-742
13 p.
|
artikel
|
| 11 |
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
|
Li, Yun
|
|
2010
|
86 |
5 |
p. 696-706
11 p.
|
artikel
|
| 12 |
Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate
|
Johnston, Jennifer J.
|
|
2010
|
86 |
5 |
p. 743-748
6 p.
|
artikel
|
| 13 |
Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
|
Collin, Rob W.J.
|
|
2010
|
86 |
5 |
p. 783-788
6 p.
|
artikel
|
| 14 |
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
|
Heinzen, Erin L.
|
|
2010
|
86 |
5 |
p. 707-718
12 p.
|
artikel
|
| 15 |
Response to Braun et al.
|
Sheridan, Eamonn
|
|
2010
|
86 |
5 |
p. 822-823
2 p.
|
artikel
|
| 16 |
Response to Graffelman: Tests of Hardy-Weinberg Equilibrium
|
Cutler, David J.
|
|
2010
|
86 |
5 |
p. 818-819
2 p.
|
artikel
|
| 17 |
The Number of Markers in the HapMap Project: Some Notes on Chi-Square and Exact Tests for Hardy-Weinberg Equilibrium
|
Graffelman, Jan
|
|
2010
|
86 |
5 |
p. 813-818
6 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2010
|
86 |
5 |
p. 659-660
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2010
|
86 |
5 |
p. 657-658
2 p.
|
artikel
|
| 20 |
Tuba8 Is Expressed at Low Levels in the Developing Mouse and Human Brain
|
Braun, Andreas
|
|
2010
|
86 |
5 |
p. 819-822
4 p.
|
artikel
|
| 21 |
Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability
|
Regier, Dean A.
|
|
2010
|
86 |
5 |
p. 765-772
8 p.
|
artikel
|
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