nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
|
Behar, Doron M. |
|
2012 |
90 |
4 |
p. 675-684 10 p. |
artikel |
2 |
Alzheimer Disease Susceptibility Loci: Evidence for a Protein Network under Natural Selection
|
Raj, Towfique |
|
2012 |
90 |
4 |
p. 720-726 7 p. |
artikel |
3 |
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome
|
Mory, Adi |
|
2012 |
90 |
4 |
p. 708-714 7 p. |
artikel |
4 |
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
|
Asharani, P.V. |
|
2012 |
90 |
4 |
p. 661-674 14 p. |
artikel |
5 |
Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci
|
Ellinghaus, David |
|
2012 |
90 |
4 |
p. 636-647 12 p. |
artikel |
6 |
Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis
|
Michot, Caroline |
|
2012 |
90 |
4 |
p. 740-745 6 p. |
artikel |
7 |
Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis
|
Lee, Hane |
|
2012 |
90 |
4 |
p. 746-751 6 p. |
artikel |
8 |
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
|
Lubs, Herbert A. |
|
2012 |
90 |
4 |
p. 579-590 12 p. |
artikel |
9 |
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study
|
Lessard, Christopher J. |
|
2012 |
90 |
4 |
p. 648-660 13 p. |
artikel |
10 |
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
|
Saxena, Richa |
|
2012 |
90 |
4 |
p. 753- 1 p. |
artikel |
11 |
Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
|
Scionti, Isabella |
|
2012 |
90 |
4 |
p. 628-635 8 p. |
artikel |
12 |
Linkage-Disequilibrium-Based Binning Affects the Interpretation of GWASs
|
Christoforou, Andrea |
|
2012 |
90 |
4 |
p. 727-733 7 p. |
artikel |
13 |
Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight
|
Ishida, Miho |
|
2012 |
90 |
4 |
p. 715-719 5 p. |
artikel |
14 |
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
|
Srour, Myriam |
|
2012 |
90 |
4 |
p. 693-700 8 p. |
artikel |
15 |
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
|
Schossig, Anna |
|
2012 |
90 |
4 |
p. 701-707 7 p. |
artikel |
16 |
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
|
Ng, Bobby G. |
|
2012 |
90 |
4 |
p. 685-688 4 p. |
artikel |
17 |
On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy
|
Im, Hae Kyung |
|
2012 |
90 |
4 |
p. 591-598 8 p. |
artikel |
18 |
Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts
|
Camacho-Vanegas, Olga |
|
2012 |
90 |
4 |
p. 614-627 14 p. |
artikel |
19 |
Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
|
Park, D.J. |
|
2012 |
90 |
4 |
p. 734-739 6 p. |
artikel |
20 |
Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
|
Itsara, Andy |
|
2012 |
90 |
4 |
p. 599-613 15 p. |
artikel |
21 |
SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome
|
Fabre, Alexandre |
|
2012 |
90 |
4 |
p. 689-692 4 p. |
artikel |
22 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2012 |
90 |
4 |
p. 577-578 2 p. |
artikel |
23 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2012 |
90 |
4 |
p. 752- 1 p. |
artikel |
24 |
This Month in The Journal
|
Cullinan, Sara B. |
|
2012 |
90 |
4 |
p. 575-576 2 p. |
artikel |