| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
|
Hjeij, Rim
|
|
2013
|
93 |
2 |
p. 357-367
11 p.
|
artikel
|
| 2 |
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
|
Jiang, Yong-hui
|
|
2013
|
93 |
2 |
p. 249-263
15 p.
|
artikel
|
| 3 |
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
|
Haack, Tobias B.
|
|
2013
|
93 |
2 |
p. 211-223
13 p.
|
artikel
|
| 4 |
Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis
|
Saruhan-Direskeneli, Güher
|
|
2013
|
93 |
2 |
p. 298-305
8 p.
|
artikel
|
| 5 |
Imprinted Chromatin around DIRAS3 Regulates Alternative Splicing of GNG12-AS1, a Long Noncoding RNA
|
Niemczyk, Malwina
|
|
2013
|
93 |
2 |
p. 224-235
12 p.
|
artikel
|
| 6 |
Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics
|
Hu, Yi-Juan
|
|
2013
|
93 |
2 |
p. 236-248
13 p.
|
artikel
|
| 7 |
miR-196a Ameliorates Phenotypes of Huntington Disease in Cell, Transgenic Mouse, and Induced Pluripotent Stem Cell Models
|
Cheng, Pei-Hsun
|
|
2013
|
93 |
2 |
p. 306-312
7 p.
|
artikel
|
| 8 |
Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma
|
Blaydon, Diana C.
|
|
2013
|
93 |
2 |
p. 330-335
6 p.
|
artikel
|
| 9 |
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
|
Davidson, Alice E.
|
|
2013
|
93 |
2 |
p. 321-329
9 p.
|
artikel
|
| 10 |
Mutations in CYC1, Encoding Cytochrome c 1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia
|
Gaignard, Pauline
|
|
2013
|
93 |
2 |
p. 384-389
6 p.
|
artikel
|
| 11 |
Mutations in LRPAP1 Are Associated with Severe Myopia in Humans
|
Aldahmesh, Mohammed A.
|
|
2013
|
93 |
2 |
p. 313-320
8 p.
|
artikel
|
| 12 |
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
|
Moore, Daniel J.
|
|
2013
|
93 |
2 |
p. 346-356
11 p.
|
artikel
|
| 13 |
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
|
Cheng, Ching-Yu
|
|
2013
|
93 |
2 |
p. 264-277
14 p.
|
artikel
|
| 14 |
Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
|
Guo, Dong-chuan
|
|
2013
|
93 |
2 |
p. 398-404
7 p.
|
artikel
|
| 15 |
RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference
|
Maples, Brian K.
|
|
2013
|
93 |
2 |
p. 278-288
11 p.
|
artikel
|
| 16 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
93 |
2 |
p. 195-196
2 p.
|
artikel
|
| 17 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
93 |
2 |
p. 193-194
2 p.
|
artikel
|
| 18 |
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
|
Wiszniewski, Wojciech
|
|
2013
|
93 |
2 |
p. 405-
1 p.
|
artikel
|
| 19 |
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
|
Wiszniewski, Wojciech
|
|
2013
|
93 |
2 |
p. 197-210
14 p.
|
artikel
|
| 20 |
Two Susceptibility Loci to Takayasu Arteritis Reveal a Synergistic Role of the IL12B and HLA-B Regions in a Japanese Population
|
Terao, Chikashi
|
|
2013
|
93 |
2 |
p. 289-297
9 p.
|
artikel
|
| 21 |
What Is the Significance of Difference in Phenotypic Variability across SNP Genotypes?
|
Sun, Xiangqing
|
|
2013
|
93 |
2 |
p. 390-397
8 p.
|
artikel
|
| 22 |
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
|
Piton, Amélie
|
|
2013
|
93 |
2 |
p. 406-
1 p.
|
artikel
|
| 23 |
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
|
Piton, Amélie
|
|
2013
|
93 |
2 |
p. 368-383
16 p.
|
artikel
|
| 24 |
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
|
Zariwala, Maimoona A.
|
|
2013
|
93 |
2 |
p. 336-345
10 p.
|
artikel
|
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