| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure
|
Sung, Yun J.
|
|
|
102 |
3 |
p. 375-400
|
artikel
|
| 2 |
Arno G. Motulsky (1923–2018): A Founder of Medical Genetics, Creator of Pharmacogenetics, and Former ASHG President
|
Jarvik, Gail P.
|
|
|
102 |
3 |
p. 335-339
|
artikel
|
| 3 |
2017 ASHG Awards and Addresses
|
|
|
|
102 |
3 |
p. 340-341
|
artikel
|
| 4 |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
|
Oláhová, Monika
|
|
|
102 |
3 |
p. 494-504
|
artikel
|
| 5 |
Comprehensive Analysis of Constraint on the Spatial Distribution of Missense Variants in Human Protein Structures
|
Sivley, R. Michael
|
|
|
102 |
3 |
p. 415-426
|
artikel
|
| 6 |
2017 Curt Stern Award Introduction: Nico Katsanis 1
|
Brunner, Han G.
|
|
|
102 |
3 |
p. 354
|
artikel
|
| 7 |
2017 Curt Stern Award: The Complexity of Simple Genetics 1
|
Katsanis, Nicholas
|
|
|
102 |
3 |
p. 355-358
|
artikel
|
| 8 |
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4
|
Liskova, Petra
|
|
|
102 |
3 |
p. 447-459
|
artikel
|
| 9 |
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia
|
Cho, Kazutoshi
|
|
|
102 |
3 |
p. 480-486
|
artikel
|
| 10 |
Inherited DNA-Repair Defects in Colorectal Cancer
|
AlDubayan, Saud H.
|
|
|
102 |
3 |
p. 401-414
|
artikel
|
| 11 |
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
|
Esteve, Clothilde
|
|
|
102 |
3 |
p. 364-374
|
artikel
|
| 12 |
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
|
Bashamboo, Anu
|
|
|
102 |
3 |
p. 487-493
|
artikel
|
| 13 |
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
|
Lassuthova, Petra
|
|
|
102 |
3 |
p. 505-514
|
artikel
|
| 14 |
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
|
Vasileiou, Georgia
|
|
|
102 |
3 |
p. 468-479
|
artikel
|
| 15 |
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy
|
Piekutowska-Abramczuk, Dorota
|
|
|
102 |
3 |
p. 460-467
|
artikel
|
| 16 |
2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way 1
|
Cox, Nancy J.
|
|
|
102 |
3 |
p. 342-349
|
artikel
|
| 17 |
Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease
|
Hook, Paul W.
|
|
|
102 |
3 |
p. 427-446
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
|
102 |
3 |
p. 333-334
|
artikel
|
| 19 |
2017 Victor A. McKusick Leadership Award 1
|
Beaudet, Arthur L.
|
|
|
102 |
3 |
p. 361-363
|
artikel
|
| 20 |
2017 Victor A. McKusick Leadership Award Introduction: Arthur L. Beaudet 1
|
Lee, Brendan
|
|
|
102 |
3 |
p. 359-360
|
artikel
|
| 21 |
2017 William Allan Award 1
|
Stefansson, Kári
|
|
|
102 |
3 |
p. 351-353
|
artikel
|
| 22 |
2017 William Allan Award Introduction: Kári Stefansson 1
|
Daly, Mark J.
|
|
|
102 |
3 |
p. 350
|
artikel
|
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