| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX
|
Poeta, Loredana
|
|
2013
|
92 |
1 |
p. 114-125
12 p.
|
artikel
|
| 2 |
Deep Whole-Genome Sequencing of 100 Southeast Asian Malays
|
Wong, Lai-Ping
|
|
2013
|
92 |
1 |
p. 52-66
15 p.
|
artikel
|
| 3 |
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
|
Huber, Céline
|
|
2013
|
92 |
1 |
p. 144-149
6 p.
|
artikel
|
| 4 |
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
|
Knowles, Michael R.
|
|
2013
|
92 |
1 |
p. 99-106
8 p.
|
artikel
|
| 5 |
Gain-of-Function Lipoprotein Lipase Variant rs13702 Modulates Lipid Traits through Disruption of a MicroRNA-410 Seed Site
|
Richardson, Kris
|
|
2013
|
92 |
1 |
p. 5-14
10 p.
|
artikel
|
| 6 |
Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus
|
Mueller, Michael
|
|
2013
|
92 |
1 |
p. 28-40
13 p.
|
artikel
|
| 7 |
Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
|
Orloff, Mohammed S.
|
|
2013
|
92 |
1 |
p. 76-80
5 p.
|
artikel
|
| 8 |
Integrating GWAS and Expression Data for Functional Characterization of Disease-Associated SNPs: An Application to Follicular Lymphoma
|
Conde, Lucia
|
|
2013
|
92 |
1 |
p. 126-130
5 p.
|
artikel
|
| 9 |
Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians
|
Yang, Wanling
|
|
2013
|
92 |
1 |
p. 41-51
11 p.
|
artikel
|
| 10 |
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
|
McMillin, Margaret J.
|
|
2013
|
92 |
1 |
p. 150-156
7 p.
|
artikel
|
| 11 |
Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly
|
Mohamed, Jawahir Y.
|
|
2013
|
92 |
1 |
p. 157-161
5 p.
|
artikel
|
| 12 |
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
|
Pasternack, Sandra M.
|
|
2013
|
92 |
1 |
p. 81-87
7 p.
|
artikel
|
| 13 |
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
|
Flanagan, Sarah E.
|
|
2013
|
92 |
1 |
p. 131-136
6 p.
|
artikel
|
| 14 |
Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis
|
Diogo, Dorothée
|
|
2013
|
92 |
1 |
p. 15-27
13 p.
|
artikel
|
| 15 |
Refinement in Localization and Identification of Gene Regions Associated with Crohn Disease
|
Elding, Heather
|
|
2013
|
92 |
1 |
p. 107-113
7 p.
|
artikel
|
| 16 |
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
|
Onoufriadis, Alexandros
|
|
2013
|
92 |
1 |
p. 88-98
11 p.
|
artikel
|
| 17 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
92 |
1 |
p. 3-4
2 p.
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
92 |
1 |
p. 1-2
2 p.
|
artikel
|
| 19 |
Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness
|
Zeitz, Christina
|
|
2013
|
92 |
1 |
p. 67-75
9 p.
|
artikel
|
| 20 |
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
|
Below, Jennifer E.
|
|
2013
|
92 |
1 |
p. 137-143
7 p.
|
artikel
|
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