| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
|
Bhatia, Shipra
|
|
2013
|
93 |
6 |
p. 1126-1134
9 p.
|
artikel
|
| 2 |
Estimation of SNP Heritability from Dense Genotype Data
|
Lee, S. Hong
|
|
2013
|
93 |
6 |
p. 1151-1155
5 p.
|
artikel
|
| 3 |
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1
|
Meyer, Kerstin B.
|
|
2013
|
93 |
6 |
p. 1046-1060
15 p.
|
artikel
|
| 4 |
Genetic and Epigenetic Regulation of Human lincRNA Gene Expression
|
Popadin, Konstantin
|
|
2013
|
93 |
6 |
p. 1015-1026
12 p.
|
artikel
|
| 5 |
Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
|
Grundberg, Elin
|
|
2013
|
93 |
6 |
p. 1158-
1 p.
|
artikel
|
| 6 |
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
|
Gupta, Vandana A.
|
|
2013
|
93 |
6 |
p. 1108-1117
10 p.
|
artikel
|
| 7 |
Integrating GWASs and Human Protein Interaction Networks Identifies a Gene Subnetwork Underlying Alcohol Dependence
|
Han, Shizhong
|
|
2013
|
93 |
6 |
p. 1027-1034
8 p.
|
artikel
|
| 8 |
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
|
Rosenthal, Elisabeth A.
|
|
2013
|
93 |
6 |
p. 1035-1045
11 p.
|
artikel
|
| 9 |
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
|
Liegel, Ryan P.
|
|
2013
|
93 |
6 |
p. 1001-1014
14 p.
|
artikel
|
| 10 |
Mapping eQTLs in the Norfolk Island Genetic Isolate Identifies Candidate Genes for CVD Risk Traits
|
Benton, Miles C.
|
|
2013
|
93 |
6 |
p. 1087-1099
13 p.
|
artikel
|
| 11 |
Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice
|
Shalata, Adel
|
|
2013
|
93 |
6 |
p. 1061-1071
11 p.
|
artikel
|
| 12 |
Mutation-Driven Evolution
|
Weiss, Kenneth M.
|
|
2013
|
93 |
6 |
p. 999-1000
2 p.
|
artikel
|
| 13 |
Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears
|
Gordon, Christopher T.
|
|
2013
|
93 |
6 |
p. 1118-1125
8 p.
|
artikel
|
| 14 |
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
|
Mercier, Sandra
|
|
2013
|
93 |
6 |
p. 1100-1107
8 p.
|
artikel
|
| 15 |
Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
|
Poulter, James A.
|
|
2013
|
93 |
6 |
p. 1143-1150
8 p.
|
artikel
|
| 16 |
Response to Lee et al.: SNP-Based Heritability Analysis with Dense Data
|
Speed, Doug
|
|
2013
|
93 |
6 |
p. 1155-1157
3 p.
|
artikel
|
| 17 |
SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
|
Parry, David A.
|
|
2013
|
93 |
6 |
p. 1135-1142
8 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
93 |
6 |
p. 997-998
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
93 |
6 |
p. 995-996
2 p.
|
artikel
|
| 20 |
Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes
|
Lohmueller, Kirk E.
|
|
2013
|
93 |
6 |
p. 1072-1086
15 p.
|
artikel
|
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