| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
|
Butcher, Darci T.
|
|
2017
|
100 |
5 |
p. 773-788
16 p.
|
artikel
|
| 2 |
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
|
Ngcungcu, Thandiswa
|
|
2017
|
100 |
5 |
p. 737-750
14 p.
|
artikel
|
| 3 |
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy
|
Srour, Myriam
|
|
2017
|
100 |
5 |
p. 824-830
7 p.
|
artikel
|
| 4 |
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas
|
Zhang, Qilin
|
|
2017
|
100 |
5 |
p. 817-823
7 p.
|
artikel
|
| 5 |
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
|
Patel, Nisha
|
|
2017
|
100 |
5 |
p. 831-836
6 p.
|
artikel
|
| 6 |
High-Resolution Genetic Maps Identify Multiple Type 2 Diabetes Loci at Regulatory Hotspots in African Americans and Europeans
|
Lau, Winston
|
|
2017
|
100 |
5 |
p. 803-816
14 p.
|
artikel
|
| 7 |
Inferring Human Demographic Histories of Non-African Populations from Patterns of Allele Sharing
|
Wall, Jeffrey D.
|
|
2017
|
100 |
5 |
p. 766-772
7 p.
|
artikel
|
| 8 |
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
|
Boycott, Kym M.
|
|
2017
|
100 |
5 |
p. 695-705
11 p.
|
artikel
|
| 9 |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
|
Tatton-Brown, Katrina
|
|
2017
|
100 |
5 |
p. 725-736
12 p.
|
artikel
|
| 10 |
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
|
Hall, Emma A.
|
|
2017
|
100 |
5 |
p. 706-724
19 p.
|
artikel
|
| 11 |
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
|
Cullinane, Andrew R.
|
|
2017
|
100 |
5 |
p. 837-
1 p.
|
artikel
|
| 12 |
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites
|
Lee, Melissa
|
|
2017
|
100 |
5 |
p. 751-765
15 p.
|
artikel
|
| 13 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
100 |
5 |
p. 693-694
2 p.
|
artikel
|
| 14 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
100 |
5 |
p. 691-692
2 p.
|
artikel
|
| 15 |
Widespread Allelic Heterogeneity in Complex Traits
|
Hormozdiari, Farhad
|
|
2017
|
100 |
5 |
p. 789-802
14 p.
|
artikel
|
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