| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
|
Simons, Cas
|
|
2013
|
92 |
5 |
p. 767-773
7 p.
|
artikel
|
| 2 |
eXclusion: Toward Integrating the X Chromosome in Genome-wide Association Analyses
|
Wise, Anastasia L.
|
|
2013
|
92 |
5 |
p. 643-647
5 p.
|
artikel
|
| 3 |
FOXP2 Targets Show Evidence of Positive Selection in European Populations
|
Ayub, Qasim
|
|
2013
|
92 |
5 |
p. 696-706
11 p.
|
artikel
|
| 4 |
Genome-wide Association Analysis for Multiple Continuous Secondary Phenotypes
|
Schifano, Elizabeth D.
|
|
2013
|
92 |
5 |
p. 744-759
16 p.
|
artikel
|
| 5 |
Incidental Variants Are Critical for Genomics
|
Biesecker, Leslie G.
|
|
2013
|
92 |
5 |
p. 648-651
4 p.
|
artikel
|
| 6 |
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
|
Pingault, Veronique
|
|
2013
|
92 |
5 |
p. 707-724
18 p.
|
artikel
|
| 7 |
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
|
Kashiyama, Kazuya
|
|
2013
|
92 |
5 |
p. 807-819
13 p.
|
artikel
|
| 8 |
MASTOR: Mixed-Model Association Mapping of Quantitative Traits in Samples with Related Individuals
|
Jakobsdottir, Johanna
|
|
2013
|
92 |
5 |
p. 652-666
15 p.
|
artikel
|
| 9 |
Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia
|
Dirami, Thassadite
|
|
2013
|
92 |
5 |
p. 760-766
7 p.
|
artikel
|
| 10 |
Mutations in ANTXR1 Cause GAPO Syndrome
|
Stránecký, Viktor
|
|
2013
|
92 |
5 |
p. 792-799
8 p.
|
artikel
|
| 11 |
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
|
Taft, Ryan J.
|
|
2013
|
92 |
5 |
p. 774-780
7 p.
|
artikel
|
| 12 |
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
|
Bogliolo, Massimo
|
|
2013
|
92 |
5 |
p. 800-806
7 p.
|
artikel
|
| 13 |
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism
|
Miraoui, Hichem
|
|
2013
|
92 |
5 |
p. 725-743
19 p.
|
artikel
|
| 14 |
Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia
|
Tran-Viet, Khanh-Nhat
|
|
2013
|
92 |
5 |
p. 820-826
7 p.
|
artikel
|
| 15 |
Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS
|
He, Xin
|
|
2013
|
92 |
5 |
p. 667-680
14 p.
|
artikel
|
| 16 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
92 |
5 |
p. 641-642
2 p.
|
artikel
|
| 17 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
92 |
5 |
p. 639-640
2 p.
|
artikel
|
| 18 |
Weight Loss after Gastric Bypass Is Associated with a Variant at 15q26.1
|
Hatoum, Ida J.
|
|
2013
|
92 |
5 |
p. 827-834
8 p.
|
artikel
|
| 19 |
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
|
Campeau, Philippe M.
|
|
2013
|
92 |
5 |
p. 781-791
11 p.
|
artikel
|
| 20 |
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
|
Hirata, Hiromi
|
|
2013
|
92 |
5 |
p. 681-695
15 p.
|
artikel
|
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