| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
|
Tang, Shuyan
|
|
2017
|
100 |
6 |
p. 854-864
|
artikel
|
| 2 |
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
|
Panagiotou, Evangelia S.
|
|
2017
|
100 |
6 |
p. 960-968
|
artikel
|
| 3 |
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits
|
Yao, Chen
|
|
2017
|
100 |
6 |
p. 985-986
|
artikel
|
| 4 |
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
|
Strande, Natasha T.
|
|
2017
|
100 |
6 |
p. 895-906
|
artikel
|
| 5 |
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease
|
Ko, Yi-An
|
|
2017
|
100 |
6 |
p. 940-953
|
artikel
|
| 6 |
Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression
|
Hauberg, Mads Engel
|
|
2017
|
100 |
6 |
p. 885-894
|
artikel
|
| 7 |
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
|
Wang, Julia
|
|
2017
|
100 |
6 |
p. 843-853
|
artikel
|
| 8 |
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
|
Boyden, Lynn M.
|
|
2017
|
100 |
6 |
p. 978-984
|
artikel
|
| 9 |
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
|
Chelban, Viorica
|
|
2017
|
100 |
6 |
p. 969-977
|
artikel
|
| 10 |
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
|
Heinz, Lisa
|
|
2017
|
100 |
6 |
p. 926-939
|
artikel
|
| 11 |
Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci
|
Hannon, Eilis
|
|
2017
|
100 |
6 |
p. 954-959
|
artikel
|
| 12 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
100 |
6 |
p. 841-842
|
artikel
|
| 13 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
100 |
6 |
p. 839-840
|
artikel
|
| 14 |
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
|
Tachmazidou, Ioanna
|
|
2017
|
100 |
6 |
p. 865-884
|
artikel
|
| 15 |
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
|
Gabriele, Michele
|
|
2017
|
100 |
6 |
p. 907-925
|
artikel
|
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