| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
|
Zazo Seco, Celia
|
|
2015
|
97 |
5 |
p. 647-660
14 p.
|
artikel
|
| 2 |
Amino Acid Variation in HLA Class II Proteins Is a Major Determinant of Humoral Response to Common Viruses
|
Hammer, Christian
|
|
2015
|
97 |
5 |
p. 738-743
6 p.
|
artikel
|
| 3 |
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
|
Coutelier, Marie
|
|
2015
|
97 |
5 |
p. 726-737
12 p.
|
artikel
|
| 4 |
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering
|
Raza, M. Hashim
|
|
2015
|
97 |
5 |
p. 715-725
11 p.
|
artikel
|
| 5 |
Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models
|
Chen, Xu
|
|
2015
|
97 |
5 |
p. 708-714
7 p.
|
artikel
|
| 6 |
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
|
Zhang, Ling
|
|
2015
|
97 |
5 |
p. 769-
1 p.
|
artikel
|
| 7 |
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer
|
Yehia, Lamis
|
|
2015
|
97 |
5 |
p. 661-676
16 p.
|
artikel
|
| 8 |
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
|
Kishita, Yoshihito
|
|
2015
|
97 |
5 |
p. 761-768
8 p.
|
artikel
|
| 9 |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
|
Srour, Myriam
|
|
2015
|
97 |
5 |
p. 744-753
10 p.
|
artikel
|
| 10 |
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
|
Yuan, Bo
|
|
2015
|
97 |
5 |
p. 691-707
17 p.
|
artikel
|
| 11 |
Privacy Risks from Genomic Data-Sharing Beacons
|
Shringarpure, Suyash S.
|
|
2015
|
97 |
5 |
p. 631-646
16 p.
|
artikel
|
| 12 |
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
|
Angebault, Claire
|
|
2015
|
97 |
5 |
p. 769-
1 p.
|
artikel
|
| 13 |
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
|
Angebault, Claire
|
|
2015
|
97 |
5 |
p. 754-760
7 p.
|
artikel
|
| 14 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
97 |
5 |
p. 629-630
2 p.
|
artikel
|
| 15 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
97 |
5 |
p. 627-628
2 p.
|
artikel
|
| 16 |
Two-Variance-Component Model Improves Genetic Prediction in Family Datasets
|
Tucker, George
|
|
2015
|
97 |
5 |
p. 677-690
14 p.
|
artikel
|
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