| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
American Society of Human Genetics GenArt Competition
|
|
|
2012
|
91 |
5 |
p. 771-772
2 p.
|
artikel
|
| 2 |
A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability
|
Ehret, Georg B.
|
|
2012
|
91 |
5 |
p. 863-871
9 p.
|
artikel
|
| 3 |
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss
|
von Ameln, Simon
|
|
2012
|
91 |
5 |
p. 919-927
9 p.
|
artikel
|
| 4 |
AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes
|
Rozen, Steven G.
|
|
2012
|
91 |
5 |
p. 890-896
7 p.
|
artikel
|
| 5 |
Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data
|
Jun, Goo
|
|
2012
|
91 |
5 |
p. 839-848
10 p.
|
artikel
|
| 6 |
Exploring Population Admixture Dynamics via Empirical and Simulated Genome-wide Distribution of Ancestral Chromosomal Segments
|
Jin, Wenfei
|
|
2012
|
91 |
5 |
p. 849-862
14 p.
|
artikel
|
| 7 |
Genetic Variants at 6p21.1 and 7p15.3 Are Associated with Risk of Multiple Cancers in Han Chinese
|
Jin, Guangfu
|
|
2012
|
91 |
5 |
p. 928-934
7 p.
|
artikel
|
| 8 |
Identification of IL18RAP/IL18R1 and IL12B as Leprosy Risk Genes Demonstrates Shared Pathogenesis between Inflammation and Infectious Diseases
|
Liu, Hong
|
|
2012
|
91 |
5 |
p. 935-941
7 p.
|
artikel
|
| 9 |
Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project
|
Auer, Paul L.
|
|
2012
|
91 |
5 |
p. 794-808
15 p.
|
artikel
|
| 10 |
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
|
Carmignac, Virginie
|
|
2012
|
91 |
5 |
p. 950-957
8 p.
|
artikel
|
| 11 |
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
|
Asselbergs, Folkert W.
|
|
2012
|
91 |
5 |
p. 823-838
16 p.
|
artikel
|
| 12 |
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History
|
Palamara, Pier Francesco
|
|
2012
|
91 |
5 |
p. 809-822
14 p.
|
artikel
|
| 13 |
Linkage-Disequilibrium-Based Binning Misleads the Interpretation of Genome-wide Association Studies
|
Zhu, Xiaofeng
|
|
2012
|
91 |
5 |
p. 965-968
4 p.
|
artikel
|
| 14 |
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
|
Lin, Zhimiao
|
|
2012
|
91 |
5 |
p. 906-911
6 p.
|
artikel
|
| 15 |
Loss-of-Function Mutations in LRRC6, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
|
Kott, Esther
|
|
2012
|
91 |
5 |
p. 958-964
7 p.
|
artikel
|
| 16 |
Margery Wayne Shaw, MD, JD (1923–2012): A Remembrance
|
Reilly, Philip R.
|
|
2012
|
91 |
5 |
p. 773-777
5 p.
|
artikel
|
| 17 |
Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
|
Vedrenne, Vanessa
|
|
2012
|
91 |
5 |
p. 912-918
7 p.
|
artikel
|
| 18 |
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
|
Indrieri, Alessia
|
|
2012
|
91 |
5 |
p. 942-949
8 p.
|
artikel
|
| 19 |
Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
|
Twigg, Stephen R.F.
|
|
2012
|
91 |
5 |
p. 897-905
9 p.
|
artikel
|
| 20 |
Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss
|
Yariz, Kemal O.
|
|
2012
|
91 |
5 |
p. 872-882
11 p.
|
artikel
|
| 21 |
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
|
Bernard, Geneviève
|
|
2012
|
91 |
5 |
p. 972-
1 p.
|
artikel
|
| 22 |
Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
|
Schraders, Margit
|
|
2012
|
91 |
5 |
p. 883-889
7 p.
|
artikel
|
| 23 |
Response to Ott and Hoh
|
Ionita-Laza, Iuliana
|
|
2012
|
91 |
5 |
p. 970-971
2 p.
|
artikel
|
| 24 |
Response to Zhu et al.
|
Christoforou, Andrea
|
|
2012
|
91 |
5 |
p. 969-970
2 p.
|
artikel
|
| 25 |
Scan Statistics in Human Gene Mapping
|
Ott, Jurg
|
|
2012
|
91 |
5 |
p. 970-
1 p.
|
artikel
|
| 26 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
91 |
5 |
p. 769-770
2 p.
|
artikel
|
| 27 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2012
|
91 |
5 |
p. 767-768
2 p.
|
artikel
|
| 28 |
Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans
|
Morris, David L.
|
|
2012
|
91 |
5 |
p. 778-793
16 p.
|
artikel
|
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