| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals via Off-Target Sequence Reads
|
Hu, Youna
|
|
2013
|
93 |
5 |
p. 891-899
9 p.
|
artikel
|
| 2 |
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance
|
Sumner, Charlotte J.
|
|
2013
|
93 |
5 |
p. 976-983
8 p.
|
artikel
|
| 3 |
Association of Parkinson Disease with Structural and Regulatory Variants in the HLA Region
|
Wissemann, William T.
|
|
2013
|
93 |
5 |
p. 984-993
10 p.
|
artikel
|
| 4 |
Beyond GWASs: Illuminating the Dark Road from Association to Function
|
Edwards, Stacey L.
|
|
2013
|
93 |
5 |
p. 779-797
19 p.
|
artikel
|
| 5 |
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
|
Halbritter, Jan
|
|
2013
|
93 |
5 |
p. 915-925
11 p.
|
artikel
|
| 6 |
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
|
Suls, Arvid
|
|
2013
|
93 |
5 |
p. 967-975
9 p.
|
artikel
|
| 7 |
Detecting Identity by Descent and Estimating Genotype Error Rates in Sequence Data
|
Browning, Brian L.
|
|
2013
|
93 |
5 |
p. 840-851
12 p.
|
artikel
|
| 8 |
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
|
Takahashi, Yuji
|
|
2013
|
93 |
5 |
p. 900-905
6 p.
|
artikel
|
| 9 |
Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain
|
Zhang, Xiang Yang
|
|
2013
|
93 |
5 |
p. 957-966
10 p.
|
artikel
|
| 10 |
Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency
|
Chen, Karin
|
|
2013
|
93 |
5 |
p. 812-824
13 p.
|
artikel
|
| 11 |
Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
|
Grundberg, Elin
|
|
2013
|
93 |
5 |
p. 876-890
15 p.
|
artikel
|
| 12 |
Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs
|
Hemani, Gibran
|
|
2013
|
93 |
5 |
p. 865-875
11 p.
|
artikel
|
| 13 |
Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
|
Hildick-Smith, Gordon J.
|
|
2013
|
93 |
5 |
p. 906-914
9 p.
|
artikel
|
| 14 |
Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
|
Kubo, Akiharu
|
|
2013
|
93 |
5 |
p. 945-956
12 p.
|
artikel
|
| 15 |
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
|
Schmidts, Miriam
|
|
2013
|
93 |
5 |
p. 932-944
13 p.
|
artikel
|
| 16 |
Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries
|
Carpenter, Meredith L.
|
|
2013
|
93 |
5 |
p. 852-864
13 p.
|
artikel
|
| 17 |
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
|
Srour, Myriam
|
|
2013
|
93 |
5 |
p. 994-
1 p.
|
artikel
|
| 18 |
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
|
Dauber, Andrew
|
|
2013
|
93 |
5 |
p. 994-
1 p.
|
artikel
|
| 19 |
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
|
Dauber, Andrew
|
|
2013
|
93 |
5 |
p. 798-811
14 p.
|
artikel
|
| 20 |
The Roles of FMRP-Regulated Genes in Autism Spectrum Disorder: Single- and Multiple-Hit Genetic Etiologies
|
Steinberg, Julia
|
|
2013
|
93 |
5 |
p. 825-839
15 p.
|
artikel
|
| 21 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
93 |
5 |
p. 777-778
2 p.
|
artikel
|
| 22 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
93 |
5 |
p. 775-776
2 p.
|
artikel
|
| 23 |
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
|
Huber, Céline
|
|
2013
|
93 |
5 |
p. 926-931
6 p.
|
artikel
|
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