| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Fast, Powerful Method for Detecting Identity by Descent
|
Browning, Brian L.
|
|
2011
|
88 |
2 |
p. 173-182
10 p.
|
artikel
|
| 2 |
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews
|
Zelinger, Lina
|
|
2011
|
88 |
2 |
p. 207-215
9 p.
|
artikel
|
| 3 |
Ancient Voyaging and Polynesian Origins
|
Soares, Pedro
|
|
2011
|
88 |
2 |
p. 239-247
9 p.
|
artikel
|
| 4 |
Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy
|
Jordan, Daniel M.
|
|
2011
|
88 |
2 |
p. 183-192
10 p.
|
artikel
|
| 5 |
Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease
|
Cario, Holger
|
|
2011
|
88 |
2 |
p. 226-231
6 p.
|
artikel
|
| 6 |
FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish
|
Ghassibe-Sabbagh, Michella
|
|
2011
|
88 |
2 |
p. 150-161
12 p.
|
artikel
|
| 7 |
Functional Screening of Alzheimer Pathology Genome-wide Association Signals in Drosophila
|
Shulman, Joshua M.
|
|
2011
|
88 |
2 |
p. 232-238
7 p.
|
artikel
|
| 8 |
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
|
Senderek, Jan
|
|
2011
|
88 |
2 |
p. 162-172
11 p.
|
artikel
|
| 9 |
Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
|
Banka, Siddharth
|
|
2011
|
88 |
2 |
p. 216-225
10 p.
|
artikel
|
| 10 |
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
|
Borck, Guntram
|
|
2011
|
88 |
2 |
p. 127-137
11 p.
|
artikel
|
| 11 |
Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans
|
Tao, Hirotaka
|
|
2011
|
88 |
2 |
p. 138-149
12 p.
|
artikel
|
| 12 |
Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome
|
Belostotsky, Ruth
|
|
2011
|
88 |
2 |
p. 193-200
8 p.
|
artikel
|
| 13 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2011
|
88 |
2 |
p. 125-126
2 p.
|
artikel
|
| 14 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2011
|
88 |
2 |
p. 123-124
2 p.
|
artikel
|
| 15 |
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
|
Züchner, Stephan
|
|
2011
|
88 |
2 |
p. 201-206
6 p.
|
artikel
|
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