| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency
|
Zhou, Qing
|
|
2012
|
91 |
4 |
p. 713-720
8 p.
|
artikel
|
| 2 |
A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
|
Schrauwen, Isabelle
|
|
2012
|
91 |
4 |
p. 636-645
10 p.
|
artikel
|
| 3 |
An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects
|
Ackerman, Christine
|
|
2012
|
91 |
4 |
p. 646-659
14 p.
|
artikel
|
| 4 |
A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
|
Huang, Lingli
|
|
2012
|
91 |
4 |
p. 694-702
9 p.
|
artikel
|
| 5 |
An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
|
Janer, Alexandre
|
|
2012
|
91 |
4 |
p. 737-743
7 p.
|
artikel
|
| 6 |
A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
|
Chong, Jessica X.
|
|
2012
|
91 |
4 |
p. 608-620
13 p.
|
artikel
|
| 7 |
Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation
|
Chen, Yi-an
|
|
2012
|
91 |
4 |
p. 762-764
3 p.
|
artikel
|
| 8 |
Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis
|
Franceschini, Nora
|
|
2012
|
91 |
4 |
p. 744-753
10 p.
|
artikel
|
| 9 |
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
|
Fromer, Menachem
|
|
2012
|
91 |
4 |
p. 597-607
11 p.
|
artikel
|
| 10 |
DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex
|
Numata, Shusuke
|
|
2012
|
91 |
4 |
p. 765-
1 p.
|
artikel
|
| 11 |
Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations
|
Liu, Dajiang J.
|
|
2012
|
91 |
4 |
p. 585-596
12 p.
|
artikel
|
| 12 |
Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population
|
Nakamura, Minoru
|
|
2012
|
91 |
4 |
p. 721-728
8 p.
|
artikel
|
| 13 |
Genome-wide Linkage and Association Analyses Implicate FASN in Predisposition to Uterine Leiomyomata
|
Eggert, Stacey L.
|
|
2012
|
91 |
4 |
p. 621-628
8 p.
|
artikel
|
| 14 |
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus
|
Spielmann, Malte
|
|
2012
|
91 |
4 |
p. 629-635
7 p.
|
artikel
|
| 15 |
Illuminating Potential Technical Artifacts of DNA-Methylation Array Probes
|
Blair, John D.
|
|
2012
|
91 |
4 |
p. 760-762
3 p.
|
artikel
|
| 16 |
Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
|
Garcia-Diaz, Beatriz
|
|
2012
|
91 |
4 |
p. 729-736
8 p.
|
artikel
|
| 17 |
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
|
Nyegaard, Mette
|
|
2012
|
91 |
4 |
p. 703-712
10 p.
|
artikel
|
| 18 |
Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
|
Giehl, Kathrin A.
|
|
2012
|
91 |
4 |
p. 754-759
6 p.
|
artikel
|
| 19 |
Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation
|
Kidd, Jeffrey M.
|
|
2012
|
91 |
4 |
p. 660-671
12 p.
|
artikel
|
| 20 |
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
|
Olbrich, Heike
|
|
2012
|
91 |
4 |
p. 672-684
13 p.
|
artikel
|
| 21 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
91 |
4 |
p. 583-584
2 p.
|
artikel
|
| 22 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2012
|
91 |
4 |
p. 581-582
2 p.
|
artikel
|
| 23 |
Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
|
Horani, Amjad
|
|
2012
|
91 |
4 |
p. 685-693
9 p.
|
artikel
|
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