| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
|
Dorschner, Michael O.
|
|
2013
|
93 |
4 |
p. 631-640
10 p.
|
artikel
|
| 2 |
Cole Disease Results from Mutations in ENPP1
|
Eytan, Ori
|
|
2013
|
93 |
4 |
p. 752-757
6 p.
|
artikel
|
| 3 |
Fine Mapping and Identification of BMI Loci in African Americans
|
Gong, Jian
|
|
2013
|
93 |
4 |
p. 661-671
11 p.
|
artikel
|
| 4 |
Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia
|
Rippey, Caitlin
|
|
2013
|
93 |
4 |
p. 697-710
14 p.
|
artikel
|
| 5 |
Genetic Mapping with Multiple Levels of Phenotypic Information Reveals Determinants of Lymphocyte Glucocorticoid Sensitivity
|
Maranville, Joseph C.
|
|
2013
|
93 |
4 |
p. 735-743
9 p.
|
artikel
|
| 6 |
Haplotype Estimation Using Sequencing Reads
|
Delaneau, Olivier
|
|
2013
|
93 |
4 |
p. 687-696
10 p.
|
artikel
|
| 7 |
Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder
|
Poultney, Christopher S.
|
|
2013
|
93 |
4 |
p. 607-619
13 p.
|
artikel
|
| 8 |
Irene A. Uchida, 1917–2013
|
Davidson, Ronald G.
|
|
2013
|
93 |
4 |
p. 591-594
4 p.
|
artikel
|
| 9 |
Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4
|
Riazuddin, S. Amer
|
|
2013
|
93 |
4 |
p. 758-764
7 p.
|
artikel
|
| 10 |
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
|
Bonnen, Penelope E.
|
|
2013
|
93 |
4 |
p. 773-
1 p.
|
artikel
|
| 11 |
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
|
Koehler, Katrin
|
|
2013
|
93 |
4 |
p. 727-734
8 p.
|
artikel
|
| 12 |
Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
|
Al-Sayed, Moeenaldeen D.
|
|
2013
|
93 |
4 |
p. 721-726
6 p.
|
artikel
|
| 13 |
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
|
Knowles, Michael R.
|
|
2013
|
93 |
4 |
p. 711-720
10 p.
|
artikel
|
| 14 |
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
|
Srour, Myriam
|
|
2013
|
93 |
4 |
p. 765-772
8 p.
|
artikel
|
| 15 |
Reliable Identification of Genomic Variants from RNA-Seq Data
|
Piskol, Robert
|
|
2013
|
93 |
4 |
p. 641-651
11 p.
|
artikel
|
| 16 |
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
|
Sacconi, Sabrina
|
|
2013
|
93 |
4 |
p. 744-751
8 p.
|
artikel
|
| 17 |
The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population
|
Tu, Xin
|
|
2013
|
93 |
4 |
p. 652-660
9 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
93 |
4 |
p. 589-590
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
93 |
4 |
p. 587-588
2 p.
|
artikel
|
| 20 |
Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts
|
Aufenvenne, Karin
|
|
2013
|
93 |
4 |
p. 620-630
11 p.
|
artikel
|
| 21 |
Transmission Disequilibrium of Small CNVs in Simplex Autism
|
Krumm, Niklas
|
|
2013
|
93 |
4 |
p. 595-606
12 p.
|
artikel
|
| 22 |
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
|
Austin-Tse, Christina
|
|
2013
|
93 |
4 |
p. 672-686
15 p.
|
artikel
|
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