| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa
|
Tanackovic, Goranka
|
|
2011
|
88 |
5 |
p. 643-649
7 p.
|
artikel
|
| 2 |
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
|
Corbett, Mark A.
|
|
2011
|
88 |
5 |
p. 657-663
7 p.
|
artikel
|
| 3 |
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
|
Vissers, Lisenka E.L.M.
|
|
2011
|
88 |
5 |
p. 608-615
8 p.
|
artikel
|
| 4 |
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
|
Puente, Xose S.
|
|
2011
|
88 |
5 |
p. 650-656
7 p.
|
artikel
|
| 5 |
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
|
Götz, Alexandra
|
|
2011
|
88 |
5 |
p. 635-642
8 p.
|
artikel
|
| 6 |
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
|
Southgate, Laura
|
|
2011
|
88 |
5 |
p. 574-585
12 p.
|
artikel
|
| 7 |
Genome-wide Association Study Identifies Four Genetic Loci Associated with Thyroid Volume and Goiter Risk
|
Teumer, Alexander
|
|
2011
|
88 |
5 |
p. 664-673
10 p.
|
artikel
|
| 8 |
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
|
Alkuraya, Fowzan S.
|
|
2011
|
88 |
5 |
p. 677-
1 p.
|
artikel
|
| 9 |
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
|
Alkuraya, Fowzan S.
|
|
2011
|
88 |
5 |
p. 536-547
12 p.
|
artikel
|
| 10 |
Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
|
Arsov, Todor
|
|
2011
|
88 |
5 |
p. 566-573
8 p.
|
artikel
|
| 11 |
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
|
Bem, Danai
|
|
2011
|
88 |
5 |
p. 678-
1 p.
|
artikel
|
| 12 |
Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
|
Schraders, Margit
|
|
2011
|
88 |
5 |
p. 628-634
7 p.
|
artikel
|
| 13 |
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
|
Huebner, Antje K.
|
|
2011
|
88 |
5 |
p. 621-627
7 p.
|
artikel
|
| 14 |
Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
|
Mazor, Masha
|
|
2011
|
88 |
5 |
p. 599-607
9 p.
|
artikel
|
| 15 |
Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies
|
Han, Buhm
|
|
2011
|
88 |
5 |
p. 586-598
13 p.
|
artikel
|
| 16 |
Response to Bayley: Functional Study Informs Bioinformatic Analysis
|
Ni, Ying
|
|
2011
|
88 |
5 |
p. 676-
1 p.
|
artikel
|
| 17 |
Risk Prediction of Complex Diseases from Family History and Known Susceptibility Loci, with Applications for Cancer Screening
|
So, Hon-Cheong
|
|
2011
|
88 |
5 |
p. 548-565
18 p.
|
artikel
|
| 18 |
Succinate Dehydrogenase Gene Variants and Their Role in Cowden Syndrome
|
Bayley, Jean-Pierre
|
|
2011
|
88 |
5 |
p. 674-675
2 p.
|
artikel
|
| 19 |
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
|
Bakircioglu, Mehmet
|
|
2011
|
88 |
5 |
p. 523-535
13 p.
|
artikel
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2011
|
88 |
5 |
p. 521-522
2 p.
|
artikel
|
| 21 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2011
|
88 |
5 |
p. 519-520
2 p.
|
artikel
|
| 22 |
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
|
O'Sullivan, James
|
|
2011
|
88 |
5 |
p. 616-620
5 p.
|
artikel
|
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