| 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 |
5 |
p. 936-
1 p.
|
artikel
|
| 2 |
A General Framework for Two-Stage Analysis of Genome-wide Association Studies and Its Application to Case-Control Studies
|
Wason, James M.S.
|
|
2012
|
90 |
5 |
p. 760-773
14 p.
|
artikel
|
| 3 |
A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia
|
Zhao, Han
|
|
2012
|
90 |
5 |
p. 900-906
7 p.
|
artikel
|
| 4 |
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
|
Rieder, Mark J.
|
|
2012
|
90 |
5 |
p. 907-914
8 p.
|
artikel
|
| 5 |
A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits
|
Bhattacharjee, Samsiddhi
|
|
2012
|
90 |
5 |
p. 821-835
15 p.
|
artikel
|
| 6 |
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
|
Hussain, Muhammad Sajid
|
|
2012
|
90 |
5 |
p. 871-878
8 p.
|
artikel
|
| 7 |
Documenting the Corneal Phenotype Associated with the MIR184 c.57C>T Mutation
|
Iliff, Benjamin W.
|
|
2012
|
90 |
5 |
p. 934-
1 p.
|
artikel
|
| 8 |
Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
|
Kirwan, Michael
|
|
2012
|
90 |
5 |
p. 888-892
5 p.
|
artikel
|
| 9 |
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
|
Ameur, Adam
|
|
2012
|
90 |
5 |
p. 809-820
12 p.
|
artikel
|
| 10 |
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
|
Bernier, Francois P.
|
|
2012
|
90 |
5 |
p. 925-933
9 p.
|
artikel
|
| 11 |
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
|
Perrault, Isabelle
|
|
2012
|
90 |
5 |
p. 864-870
7 p.
|
artikel
|
| 12 |
Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C
|
Romi, Hila
|
|
2012
|
90 |
5 |
p. 893-899
7 p.
|
artikel
|
| 13 |
Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia
|
Pala, Maria
|
|
2012
|
90 |
5 |
p. 915-924
10 p.
|
artikel
|
| 14 |
Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability
|
Khan, Muzammil Ahmad
|
|
2012
|
90 |
5 |
p. 856-863
8 p.
|
artikel
|
| 15 |
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
|
Abbasi-Moheb, Lia
|
|
2012
|
90 |
5 |
p. 847-855
9 p.
|
artikel
|
| 16 |
Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
|
Nagamani, Sandesh C.S.
|
|
2012
|
90 |
5 |
p. 836-846
11 p.
|
artikel
|
| 17 |
Population Demographic History Can Cause the Appearance of Recombination Hotspots
|
Johnston, Henry R.
|
|
2012
|
90 |
5 |
p. 774-783
10 p.
|
artikel
|
| 18 |
PSORS2 Is Due to Mutations in CARD14
|
Jordan, Catherine T.
|
|
2012
|
90 |
5 |
p. 784-795
12 p.
|
artikel
|
| 19 |
Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis
|
Jordan, Catherine T.
|
|
2012
|
90 |
5 |
p. 796-808
13 p.
|
artikel
|
| 20 |
Response to Iliff et al.
|
Hughes, Anne E.
|
|
2012
|
90 |
5 |
p. 934-935
2 p.
|
artikel
|
| 21 |
SHANK1 Deletions in Males with Autism Spectrum Disorder
|
Sato, Daisuke
|
|
2012
|
90 |
5 |
p. 879-887
9 p.
|
artikel
|
| 22 |
The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
|
Behar, Doron M.
|
|
2012
|
90 |
5 |
p. 936-
1 p.
|
artikel
|
| 23 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
90 |
5 |
p. 757-759
3 p.
|
artikel
|
| 24 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2012
|
90 |
5 |
p. 755-756
2 p.
|
artikel
|
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