| 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
|
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