nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
|
Paolini, Nahuel A. |
|
2017 |
100 |
3 |
p. 506-522 17 p. |
artikel |
2 |
2016 ASHG Awards and Addresses
|
|
|
2017 |
100 |
3 |
p. 377-378 2 p. |
artikel |
3 |
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
|
Barbé, Lise |
|
2017 |
100 |
3 |
p. 488-505 18 p. |
artikel |
4 |
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy 1
|
Lee, Brendan |
|
2017 |
100 |
3 |
p. 397-400 4 p. |
artikel |
5 |
2016 Curt Stern Award Introduction: Brendan Lee 1
|
Beaudet, Arthur L. |
|
2017 |
100 |
3 |
p. 395-396 2 p. |
artikel |
6 |
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
|
Santoni, Federico A. |
|
2017 |
100 |
3 |
p. 444-453 10 p. |
artikel |
7 |
Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits
|
Civelek, Mete |
|
2017 |
100 |
3 |
p. 428-443 16 p. |
artikel |
8 |
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly
|
Tawamie, Hasan |
|
2017 |
100 |
3 |
p. 555-561 7 p. |
artikel |
9 |
Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits
|
Mancuso, Nicholas |
|
2017 |
100 |
3 |
p. 473-487 15 p. |
artikel |
10 |
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
|
Osborn, Daniel P.S. |
|
2017 |
100 |
3 |
p. 537-545 9 p. |
artikel |
11 |
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
|
Wiessner, Manuela |
|
2017 |
100 |
3 |
p. 523-536 14 p. |
artikel |
12 |
2016 Presidential Address: Let’s Make Human Genetics Great (Again): The Importance of Beauty in Science 1
|
Dietz, Harry C. |
|
2017 |
100 |
3 |
p. 379-384 6 p. |
artikel |
13 |
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US
|
Sanderson, Saskia C. |
|
2017 |
100 |
3 |
p. 414-427 14 p. |
artikel |
14 |
Response to Yehia et al.
|
Siraj, Abdul K. |
|
2017 |
100 |
3 |
p. 564-565 2 p. |
artikel |
15 |
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
|
Couto, Javier A. |
|
2017 |
100 |
3 |
p. 546-554 9 p. |
artikel |
16 |
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
|
Lim, Jae Seok |
|
2017 |
100 |
3 |
p. 454-472 19 p. |
artikel |
17 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2017 |
100 |
3 |
p. 375-376 2 p. |
artikel |
18 |
This Month in The Journal
|
Ratzel, Sarah |
|
2017 |
100 |
3 |
p. 373-374 2 p. |
artikel |
19 |
Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?
|
Yehia, Lamis |
|
2017 |
100 |
3 |
p. 562-563 2 p. |
artikel |
20 |
2016 Victor A. McKusick Leadership Award 1
|
Gartler, Stanley M. |
|
2017 |
100 |
3 |
p. 403-405 3 p. |
artikel |
21 |
2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler 1
|
Jarvik, Gail P. |
|
2017 |
100 |
3 |
p. 401-402 2 p. |
artikel |
22 |
Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy
|
Pedersen, Brent S. |
|
2017 |
100 |
3 |
p. 406-413 8 p. |
artikel |
23 |
2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling 1
|
Gusella, James F. |
|
2017 |
100 |
3 |
p. 387-394 8 p. |
artikel |
24 |
2016 William Allan Award Introduction: James Gusella 1
|
Nelson, David L. |
|
2017 |
100 |
3 |
p. 385-386 2 p. |
artikel |