| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ABCB6 Mutations Cause Ocular Coloboma
|
Wang, Lejin
|
|
2012
|
91 |
2 |
p. 397-
1 p.
|
artikel
|
| 2 |
A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer
|
Liu, Bin
|
|
2012
|
91 |
2 |
p. 384-390
7 p.
|
artikel
|
| 3 |
A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea
|
Mendez, Fernando L.
|
|
2012
|
91 |
2 |
p. 265-274
10 p.
|
artikel
|
| 4 |
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
|
Rieder, Mark J.
|
|
2012
|
91 |
2 |
p. 397-
1 p.
|
artikel
|
| 5 |
A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy
|
Hor, Hyun
|
|
2012
|
91 |
2 |
p. 396-
1 p.
|
artikel
|
| 6 |
A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
|
Semler, Oliver
|
|
2012
|
91 |
2 |
p. 349-357
9 p.
|
artikel
|
| 7 |
A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation
|
Epstein, Michael P.
|
|
2012
|
91 |
2 |
p. 215-223
9 p.
|
artikel
|
| 8 |
A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
|
Cho, Tae-Joon
|
|
2012
|
91 |
2 |
p. 343-348
6 p.
|
artikel
|
| 9 |
Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
|
Froyen, Guy
|
|
2012
|
91 |
2 |
p. 252-264
13 p.
|
artikel
|
| 10 |
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
|
Jones, Wendy D.
|
|
2012
|
91 |
2 |
p. 358-364
7 p.
|
artikel
|
| 11 |
Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
|
Majczenko, Karen
|
|
2012
|
91 |
2 |
p. 365-371
7 p.
|
artikel
|
| 12 |
Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
|
Heinzen, Erin L.
|
|
2012
|
91 |
2 |
p. 293-302
10 p.
|
artikel
|
| 13 |
Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia
|
Need, Anna C.
|
|
2012
|
91 |
2 |
p. 303-312
10 p.
|
artikel
|
| 14 |
Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
|
Merner, Nancy D.
|
|
2012
|
91 |
2 |
p. 313-319
7 p.
|
artikel
|
| 15 |
Genomic Patterns of Homozygosity in Worldwide Human Populations
|
Pemberton, Trevor J.
|
|
2012
|
91 |
2 |
p. 275-292
18 p.
|
artikel
|
| 16 |
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
|
Lee, Seunggeun
|
|
2012
|
91 |
2 |
p. 224-237
14 p.
|
artikel
|
| 17 |
Phasing of Many Thousands of Genotyped Samples
|
Williams, Amy L.
|
|
2012
|
91 |
2 |
p. 238-251
14 p.
|
artikel
|
| 18 |
POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
|
Shaheen, Ranad
|
|
2012
|
91 |
2 |
p. 330-336
7 p.
|
artikel
|
| 19 |
Rare De Novo Germline Copy-Number Variation in Testicular Cancer
|
Stadler, Zsofia K.
|
|
2012
|
91 |
2 |
p. 379-383
5 p.
|
artikel
|
| 20 |
RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
|
Hassed, Susan J.
|
|
2012
|
91 |
2 |
p. 391-395
5 p.
|
artikel
|
| 21 |
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
|
Sarig, Ofer
|
|
2012
|
91 |
2 |
p. 337-342
6 p.
|
artikel
|
| 22 |
TCTN3 Mutations Cause Mohr-Majewski Syndrome
|
Thomas, Sophie
|
|
2012
|
91 |
2 |
p. 372-378
7 p.
|
artikel
|
| 23 |
The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
|
Ishiura, Hiroyuki
|
|
2012
|
91 |
2 |
p. 320-329
10 p.
|
artikel
|
| 24 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
91 |
2 |
p. 213-214
2 p.
|
artikel
|
| 25 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2012
|
91 |
2 |
p. 211-212
2 p.
|
artikel
|
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