| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Mutation of COX6A1 Causes a Recessive Axonal or Mixed Form of Charcot-Marie-Tooth Disease
|
Tamiya, Gen
|
|
2014
|
95 |
3 |
p. 294-300
7 p.
|
artikel
|
| 2 |
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
|
Hjeij, Rim
|
|
2014
|
95 |
3 |
p. 257-274
18 p.
|
artikel
|
| 3 |
Gene-Environment Dependence Creates Spurious Gene-Environment Interaction
|
Dudbridge, Frank
|
|
2014
|
95 |
3 |
p. 301-307
7 p.
|
artikel
|
| 4 |
Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signaling Protein Levels
|
Hause, Ronald J.
|
|
2014
|
95 |
3 |
p. 340-
1 p.
|
artikel
|
| 5 |
Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency
|
Melchionda, Laura
|
|
2014
|
95 |
3 |
p. 315-325
11 p.
|
artikel
|
| 6 |
Mutations in FEZF1 Cause Kallmann Syndrome
|
Kotan, L. Damla
|
|
2014
|
95 |
3 |
p. 326-331
6 p.
|
artikel
|
| 7 |
Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome
|
Petrof, Gabriela
|
|
2014
|
95 |
3 |
p. 308-314
7 p.
|
artikel
|
| 8 |
Mutations in NOTCH1 Cause Adams-Oliver Syndrome
|
Stittrich, Anna-Barbara
|
|
2014
|
95 |
3 |
p. 275-284
10 p.
|
artikel
|
| 9 |
Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
|
Acuna-Hidalgo, Rocio
|
|
2014
|
95 |
3 |
p. 285-293
9 p.
|
artikel
|
| 10 |
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
|
Herrmann, David N.
|
|
2014
|
95 |
3 |
p. 332-339
8 p.
|
artikel
|
| 11 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
95 |
3 |
p. 243-244
2 p.
|
artikel
|
| 12 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
95 |
3 |
p. 241-242
2 p.
|
artikel
|
| 13 |
Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants
|
Li, Xin
|
|
2014
|
95 |
3 |
p. 245-256
12 p.
|
artikel
|
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