| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies
|
Lin, Dan-Yu
|
|
2011
|
89 |
3 |
p. 354-367
14 p.
|
artikel
|
| 2 |
A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy
|
Hor, Hyun
|
|
2011
|
89 |
3 |
p. 474-479
6 p.
|
artikel
|
| 3 |
A Variant in MCF2L Is Associated with Osteoarthritis
|
Day-Williams, Aaron G.
|
|
2011
|
89 |
3 |
p. 446-450
5 p.
|
artikel
|
| 4 |
Chromosomal Haplotypes by Genetic Phasing of Human Families
|
Roach, Jared C.
|
|
2011
|
89 |
3 |
p. 382-397
16 p.
|
artikel
|
| 5 |
Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease
|
Lappalainen, Tuuli
|
|
2011
|
89 |
3 |
p. 459-463
5 p.
|
artikel
|
| 6 |
Genome-wide Comparison of African-Ancestry Populations from CARe and Other Cohorts Reveals Signals of Natural Selection
|
Bhatia, Gaurav
|
|
2011
|
89 |
3 |
p. 368-381
14 p.
|
artikel
|
| 7 |
High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
|
Mordechai, Shikma
|
|
2011
|
89 |
3 |
p. 438-445
8 p.
|
artikel
|
| 8 |
Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
|
Khan, Kamron
|
|
2011
|
89 |
3 |
p. 464-473
10 p.
|
artikel
|
| 9 |
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
|
Parry, David A.
|
|
2011
|
89 |
3 |
p. 451-458
8 p.
|
artikel
|
| 10 |
Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
|
Onoufriadis, Alexandros
|
|
2011
|
89 |
3 |
p. 432-437
6 p.
|
artikel
|
| 11 |
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
|
Bernard, Geneviève
|
|
2011
|
89 |
3 |
p. 415-423
9 p.
|
artikel
|
| 12 |
ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
|
Hu, Hao
|
|
2011
|
89 |
3 |
p. 407-414
8 p.
|
artikel
|
| 13 |
The Molecular Origin and Consequences of Escape from miRNA Regulation by HLA-C Alleles
|
O'hUigin, Colm
|
|
2011
|
89 |
3 |
p. 424-431
8 p.
|
artikel
|
| 14 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2011
|
89 |
3 |
p. 351-353
3 p.
|
artikel
|
| 15 |
This Month in The Journal
|
Williamson, Robin E.
|
|
2011
|
89 |
3 |
p. 349-350
2 p.
|
artikel
|
| 16 |
Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
|
Chartier-Harlin, Marie-Christine
|
|
2011
|
89 |
3 |
p. 398-406
9 p.
|
artikel
|
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