| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent
|
Browning, Sharon R.
|
|
2015
|
97 |
3 |
p. 404-418
15 p.
|
artikel
|
| 2 |
A Genetic-Pathophysiological Framework for Craniosynostosis
|
Twigg, Stephen R.F.
|
|
2015
|
97 |
3 |
p. 359-377
19 p.
|
artikel
|
| 3 |
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
|
Johnston, Jennifer J.
|
|
2015
|
97 |
3 |
p. 465-474
10 p.
|
artikel
|
| 4 |
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
|
Vasileiou, Georgia
|
|
2015
|
97 |
3 |
p. 445-456
12 p.
|
artikel
|
| 5 |
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
|
Hempel, Maja
|
|
2015
|
97 |
3 |
p. 493-500
8 p.
|
artikel
|
| 6 |
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
|
Twigg, Stephen R.F.
|
|
2015
|
97 |
3 |
p. 378-388
11 p.
|
artikel
|
| 7 |
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
|
Fliegauf, Manfred
|
|
2015
|
97 |
3 |
p. 389-403
15 p.
|
artikel
|
| 8 |
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
|
Meester, Josephina A.N.
|
|
2015
|
97 |
3 |
p. 475-482
8 p.
|
artikel
|
| 9 |
Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation
|
Howey, Richard
|
|
2015
|
97 |
3 |
p. 419-434
16 p.
|
artikel
|
| 10 |
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
|
Tanaka, Akemi J.
|
|
2015
|
97 |
3 |
p. 457-464
8 p.
|
artikel
|
| 11 |
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
|
Botkin, Jeffrey R.
|
|
2015
|
97 |
3 |
p. 501-
1 p.
|
artikel
|
| 12 |
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
|
Fischer-Zirnsak, Björn
|
|
2015
|
97 |
3 |
p. 483-492
10 p.
|
artikel
|
| 13 |
Sequence-Level Analysis of the Major European Huntington Disease Haplotype
|
Lee, Jong-Min
|
|
2015
|
97 |
3 |
p. 435-444
10 p.
|
artikel
|
| 14 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
97 |
3 |
p. 357-358
2 p.
|
artikel
|
| 15 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
97 |
3 |
p. 355-356
2 p.
|
artikel
|
| 16 |
Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans
|
Morris, David L.
|
|
2015
|
97 |
3 |
p. 501-
1 p.
|
artikel
|
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