| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval
|
Kim, Jong Wook
|
|
2012
|
91 |
1 |
p. 180-184
5 p.
|
artikel
|
| 2 |
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
|
Staropoli, John F.
|
|
2012
|
91 |
1 |
p. 202-208
7 p.
|
artikel
|
| 3 |
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
|
Kleefstra, Tjitske
|
|
2012
|
91 |
1 |
p. 73-82
10 p.
|
artikel
|
| 4 |
Estimating Kinship in Admixed Populations
|
Thornton, Timothy
|
|
2012
|
91 |
1 |
p. 122-138
17 p.
|
artikel
|
| 5 |
Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool
|
Pagani, Luca
|
|
2012
|
91 |
1 |
p. 83-96
14 p.
|
artikel
|
| 6 |
Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V
|
Beetz, Christian
|
|
2012
|
91 |
1 |
p. 139-145
7 p.
|
artikel
|
| 7 |
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
|
Fuchs-Telem, Dana
|
|
2012
|
91 |
1 |
p. 163-170
8 p.
|
artikel
|
| 8 |
Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
|
Tang, Weihong
|
|
2012
|
91 |
1 |
p. 152-162
11 p.
|
artikel
|
| 9 |
Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
|
Luo, Rui
|
|
2012
|
91 |
1 |
p. 38-55
18 p.
|
artikel
|
| 10 |
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
|
Doherty, Dan
|
|
2012
|
91 |
1 |
p. 209-
1 p.
|
artikel
|
| 11 |
HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice
|
Webb, Bryn D.
|
|
2012
|
91 |
1 |
p. 171-179
9 p.
|
artikel
|
| 12 |
Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming Factors
|
Bedel, Aurélie
|
|
2012
|
91 |
1 |
p. 109-121
13 p.
|
artikel
|
| 13 |
Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
|
Belaya, Katsiaryna
|
|
2012
|
91 |
1 |
p. 193-201
9 p.
|
artikel
|
| 14 |
Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
|
Krawitz, Peter M.
|
|
2012
|
91 |
1 |
p. 146-151
6 p.
|
artikel
|
| 15 |
Presence of Multiple Independent Effects in Risk Loci of Common Complex Human Diseases
|
Ke, Xiayi
|
|
2012
|
91 |
1 |
p. 185-192
8 p.
|
artikel
|
| 16 |
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
|
Johnston, Jennifer J.
|
|
2012
|
91 |
1 |
p. 97-108
12 p.
|
artikel
|
| 17 |
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
|
Zhou, Jie
|
|
2012
|
91 |
1 |
p. 5-14
10 p.
|
artikel
|
| 18 |
The Evolutionary Landscape of Cytosolic Microbial Sensors in Humans
|
Vasseur, Estelle
|
|
2012
|
91 |
1 |
p. 27-37
11 p.
|
artikel
|
| 19 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
91 |
1 |
p. 3-4
2 p.
|
artikel
|
| 20 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2012
|
91 |
1 |
p. 1-2
2 p.
|
artikel
|
| 21 |
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
|
Foulquier, François
|
|
2012
|
91 |
1 |
p. 15-26
12 p.
|
artikel
|
| 22 |
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
|
Kim, Hyung-Goo
|
|
2012
|
91 |
1 |
p. 56-72
17 p.
|
artikel
|
| 23 |
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
|
Audo, Isabelle
|
|
2012
|
91 |
1 |
p. 209-
1 p.
|
artikel
|
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