nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell
|
Kulzer, Jennifer R. |
|
2014 |
94 |
2 |
p. 186-197 12 p. |
artikel |
2 |
A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome
|
Lim, Sze Chern |
|
2014 |
94 |
2 |
p. 209-222 14 p. |
artikel |
3 |
Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks
|
Peloso, Gina M. |
|
2014 |
94 |
2 |
p. 223-232 10 p. |
artikel |
4 |
A Statistical Framework to Guide Sequencing Choices in Pedigrees
|
Cheung, Charles Y.K. |
|
2014 |
94 |
2 |
p. 257-267 11 p. |
artikel |
5 |
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis
|
Holmes, Michael V. |
|
2014 |
94 |
2 |
p. 312- 1 p. |
artikel |
6 |
Causal Effects of Body Mass Index on Cardiometabolic Traits and Events: A Mendelian Randomization Analysis
|
Holmes, Michael V. |
|
2014 |
94 |
2 |
p. 198-208 11 p. |
artikel |
7 |
ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function
|
Tummala, Hemanth |
|
2014 |
94 |
2 |
p. 246-256 11 p. |
artikel |
8 |
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
|
Williamson, Kathleen A. |
|
2014 |
94 |
2 |
p. 295-302 8 p. |
artikel |
9 |
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
|
Humbert, Camille |
|
2014 |
94 |
2 |
p. 288-294 7 p. |
artikel |
10 |
Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia
|
Esteves, Typhaine |
|
2014 |
94 |
2 |
p. 268-277 10 p. |
artikel |
11 |
Mutations in CSPP1 Cause Primary Cilia Abnormalities and Joubert Syndrome with or without Jeune Asphyxiating Thoracic Dystrophy
|
Tuz, Karina |
|
2014 |
94 |
2 |
p. 310- 1 p. |
artikel |
12 |
Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
|
Howard, Malcolm F. |
|
2014 |
94 |
2 |
p. 278-287 10 p. |
artikel |
13 |
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
|
Bosch, Daniëlle G.M. |
|
2014 |
94 |
2 |
p. 303-309 7 p. |
artikel |
14 |
Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes
|
Ayub, Qasim |
|
2014 |
94 |
2 |
p. 176-185 10 p. |
artikel |
15 |
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
|
Freeze, Hudson H. |
|
2014 |
94 |
2 |
p. 161-175 15 p. |
artikel |
16 |
The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population
|
Tu, Xin |
|
2014 |
94 |
2 |
p. 311- 1 p. |
artikel |
17 |
This Month in Genetics
|
Garber, Kathryn B. |
|
2014 |
94 |
2 |
p. 159-160 2 p. |
artikel |
18 |
This Month in The Journal
|
Ratzel, Sarah |
|
2014 |
94 |
2 |
p. 157-158 2 p. |
artikel |
19 |
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
|
Lange, Leslie A. |
|
2014 |
94 |
2 |
p. 233-245 13 p. |
artikel |