nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Adjusting for Heritable Covariates Can Bias Effect Estimates in Genome-Wide Association Studies
|
Aschard, Hugues |
|
2015 |
96 |
2 |
p. 329-339 11 p. |
artikel |
2 |
A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer
|
Xiong, Donghai |
|
2015 |
96 |
2 |
p. 301-308 8 p. |
artikel |
3 |
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
|
Rutsch, Frank |
|
2015 |
96 |
2 |
p. 275-282 8 p. |
artikel |
4 |
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
|
Wortmann, Saskia B. |
|
2015 |
96 |
2 |
p. 245-257 13 p. |
artikel |
5 |
CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria
|
Saunders, Carol |
|
2015 |
96 |
2 |
p. 258-265 8 p. |
artikel |
6 |
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
|
Brea-Calvo, Gloria |
|
2015 |
96 |
2 |
p. 309-317 9 p. |
artikel |
7 |
Estimates of Continental Ancestry Vary Widely among Individuals with the Same mtDNA Haplogroup
|
Emery, Leslie S. |
|
2015 |
96 |
2 |
p. 183-193 11 p. |
artikel |
8 |
Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes
|
O’Neal, Wanda K. |
|
2015 |
96 |
2 |
p. 318-328 11 p. |
artikel |
9 |
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder
|
Maier, Robert |
|
2015 |
96 |
2 |
p. 283-294 12 p. |
artikel |
10 |
Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6
|
Masotti, Andrea |
|
2015 |
96 |
2 |
p. 295-300 6 p. |
artikel |
11 |
Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation
|
Racedo, Silvia E. |
|
2015 |
96 |
2 |
p. 235-244 10 p. |
artikel |
12 |
Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
|
Jang, Mi-Ae |
|
2015 |
96 |
2 |
p. 266-274 9 p. |
artikel |
13 |
Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints
|
Newman, Scott |
|
2015 |
96 |
2 |
p. 208-220 13 p. |
artikel |
14 |
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription
|
Singh, Amita |
|
2015 |
96 |
2 |
p. 194-207 14 p. |
artikel |
15 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2015 |
96 |
2 |
p. 181-182 2 p. |
artikel |
16 |
This Month in The Journal
|
Ratzel, Sarah |
|
2015 |
96 |
2 |
p. 179-180 2 p. |
artikel |
17 |
UBE2L3 Polymorphism Amplifies NF-κB Activation and Promotes Plasma Cell Development, Linking Linear Ubiquitination to Multiple Autoimmune Diseases
|
Lewis, Myles J. |
|
2015 |
96 |
2 |
p. 221-234 14 p. |
artikel |