| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
|
Rieder, Mark J.
|
|
2012
|
90 |
6 |
p. 1116-
1 p.
|
artikel
|
| 2 |
Cantú Syndrome Is Caused by Mutations in ABCC9
|
van Bon, Bregje W.M.
|
|
2012
|
90 |
6 |
p. 1094-1101
8 p.
|
artikel
|
| 3 |
Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
|
Lopez-Herrera, Gabriela
|
|
2012
|
90 |
6 |
p. 986-1001
16 p.
|
artikel
|
| 4 |
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
|
Mervis, Carolyn B.
|
|
2012
|
90 |
6 |
p. 1064-1070
7 p.
|
artikel
|
| 5 |
Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection
|
Machado, Lee R.
|
|
2012
|
90 |
6 |
p. 973-985
13 p.
|
artikel
|
| 6 |
Family-Based Association Studies for Next-Generation Sequencing
|
Zhu, Yun
|
|
2012
|
90 |
6 |
p. 1028-1045
18 p.
|
artikel
|
| 7 |
Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits
|
Gamazon, Eric R.
|
|
2012
|
90 |
6 |
p. 1046-1063
18 p.
|
artikel
|
| 8 |
Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans
|
Kosova, Gülüm
|
|
2012
|
90 |
6 |
p. 950-961
12 p.
|
artikel
|
| 9 |
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
|
Doherty, Dan
|
|
2012
|
90 |
6 |
p. 1088-1093
6 p.
|
artikel
|
| 10 |
Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases
|
Aschard, Hugues
|
|
2012
|
90 |
6 |
p. 1116-
1 p.
|
artikel
|
| 11 |
Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases
|
Aschard, Hugues
|
|
2012
|
90 |
6 |
p. 962-972
11 p.
|
artikel
|
| 12 |
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
|
Lanktree, Matthew B.
|
|
2012
|
90 |
6 |
p. 1116-1117
2 p.
|
artikel
|
| 13 |
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
|
Ghezzi, Daniele
|
|
2012
|
90 |
6 |
p. 1079-1087
9 p.
|
artikel
|
| 14 |
RAD21 Mutations Cause a Human Cohesinopathy
|
Deardorff, Matthew A.
|
|
2012
|
90 |
6 |
p. 1014-1027
14 p.
|
artikel
|
| 15 |
Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets
|
Ionita-Laza, Iuliana
|
|
2012
|
90 |
6 |
p. 1002-1013
12 p.
|
artikel
|
| 16 |
Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity
|
Williams, Stephen R.
|
|
2012
|
90 |
6 |
p. 941-949
9 p.
|
artikel
|
| 17 |
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
|
Kurek, Kyle C.
|
|
2012
|
90 |
6 |
p. 1108-1115
8 p.
|
artikel
|
| 18 |
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
|
Smith, Katherine R.
|
|
2012
|
90 |
6 |
p. 1102-1107
6 p.
|
artikel
|
| 19 |
The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome
|
Vandeweyer, Geert
|
|
2012
|
90 |
6 |
p. 1071-1078
8 p.
|
artikel
|
| 20 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2012
|
90 |
6 |
p. 939-940
2 p.
|
artikel
|
| 21 |
This Month in The Journal
|
Cullinan, Sara B.
|
|
2012
|
90 |
6 |
p. 937-938
2 p.
|
artikel
|
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