| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Common 16p11.2 Inversion Underlies the Joint Susceptibility to Asthma and Obesity
|
González, Juan R.
|
|
2014
|
94 |
3 |
p. 361-372
12 p.
|
artikel
|
| 2 |
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
|
Jacquemont, Sébastien
|
|
2014
|
94 |
3 |
p. 415-425
11 p.
|
artikel
|
| 3 |
An Excess of Risk-Increasing Low-Frequency Variants Can Be a Signal of Polygenic Inheritance in Complex Diseases
|
Chan, Yingleong
|
|
2014
|
94 |
3 |
p. 437-452
16 p.
|
artikel
|
| 4 |
An Expressed Retrogene of the Master Embryonic Stem Cell Gene POU5F1 Is Associated with Prostate Cancer Susceptibility
|
Breyer, Joan P.
|
|
2014
|
94 |
3 |
p. 395-404
10 p.
|
artikel
|
| 5 |
2013 ASHG Awards and Addresses
|
|
|
2014
|
94 |
3 |
p. 317-318
2 p.
|
artikel
|
| 6 |
2013 Curt Stern Award Address 1
|
Moran, John V.
|
|
2014
|
94 |
3 |
p. 340-348
9 p.
|
artikel
|
| 7 |
2013 Curt Stern Award Introduction: John Moran 1
|
Kazazian Jr., Haig H.
|
|
2014
|
94 |
3 |
p. 338-339
2 p.
|
artikel
|
| 8 |
Early Austronesians: Into and Out Of Taiwan
|
Ko, Albert Min-Shan
|
|
2014
|
94 |
3 |
p. 426-436
11 p.
|
artikel
|
| 9 |
Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders
|
Koboldt, Daniel C.
|
|
2014
|
94 |
3 |
p. 373-384
12 p.
|
artikel
|
| 10 |
Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci
|
Tragante, Vinicius
|
|
2014
|
94 |
3 |
p. 349-360
12 p.
|
artikel
|
| 11 |
Loss of α1β1 Soluble Guanylate Cyclase, the Major Nitric Oxide Receptor, Leads to Moyamoya and Achalasia
|
Hervé, Dominique
|
|
2014
|
94 |
3 |
p. 385-394
10 p.
|
artikel
|
| 12 |
Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication
|
Liu, Pengfei
|
|
2014
|
94 |
3 |
p. 462-469
8 p.
|
artikel
|
| 13 |
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood
|
van Karnebeek, Clara D.
|
|
2014
|
94 |
3 |
p. 453-461
9 p.
|
artikel
|
| 14 |
Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth
|
Homan, Claire C.
|
|
2014
|
94 |
3 |
p. 470-478
9 p.
|
artikel
|
| 15 |
2013 Presidential Address: Just Another President’s Speech (but It’s All about You) 1
|
Murray, Jeffrey C.
|
|
2014
|
94 |
3 |
p. 319-323
5 p.
|
artikel
|
| 16 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
94 |
3 |
p. 315-316
2 p.
|
artikel
|
| 17 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
94 |
3 |
p. 313-314
2 p.
|
artikel
|
| 18 |
2013 Victor A. McKusick Leadership Award Addresses 1
|
Hirschhorn, Kurt
|
|
2014
|
94 |
3 |
p. 336-337
2 p.
|
artikel
|
| 19 |
2013 Victor A. McKusick Leadership Award Introduction: Kurt and Rochelle Hirschhorn 1
|
Hirschhorn, Joel N.
|
|
2014
|
94 |
3 |
p. 334-335
2 p.
|
artikel
|
| 20 |
Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes
|
Lohmueller, Kirk E.
|
|
2014
|
94 |
3 |
p. 479-
1 p.
|
artikel
|
| 21 |
2013 William Allan Award Introduction: Aravinda Chakravarti 1
|
Eichler, Evan E.
|
|
2014
|
94 |
3 |
p. 324-325
2 p.
|
artikel
|
| 22 |
2013 William Allan Award: My Multifactorial Journey 1
|
Chakravarti, Aravinda
|
|
2014
|
94 |
3 |
p. 326-333
8 p.
|
artikel
|
| 23 |
XYLT1 Mutations in Desbuquois Dysplasia Type 2
|
Bui, Catherine
|
|
2014
|
94 |
3 |
p. 405-414
10 p.
|
artikel
|
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