| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
|
Synofzik, Matthis
|
|
2014
|
95 |
6 |
p. 689-697
9 p.
|
artikel
|
| 2 |
A Rare Functional Noncoding Variant at the GWAS-Implicated MIR137/MIR2682 Locus Might Confer Risk to Schizophrenia and Bipolar Disorder
|
Duan, Jubao
|
|
2014
|
95 |
6 |
p. 744-753
10 p.
|
artikel
|
| 3 |
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability
|
Law, Rosalind
|
|
2014
|
95 |
6 |
p. 721-728
8 p.
|
artikel
|
| 4 |
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
|
Wieczorek, Dagmar
|
|
2014
|
95 |
6 |
p. 698-707
10 p.
|
artikel
|
| 5 |
Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans
|
Popadin, Konstantin Y.
|
|
2014
|
95 |
6 |
p. 660-674
15 p.
|
artikel
|
| 6 |
Genetic Association Analysis under Complex Survey Sampling: The Hispanic Community Health Study/Study of Latinos
|
Lin, Dan-Yu
|
|
2014
|
95 |
6 |
p. 675-688
14 p.
|
artikel
|
| 7 |
Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome
|
Ehmke, Nadja
|
|
2014
|
95 |
6 |
p. 763-770
8 p.
|
artikel
|
| 8 |
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
|
Colin, Estelle
|
|
2014
|
95 |
6 |
p. 637-648
12 p.
|
artikel
|
| 9 |
MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability
|
Wood-Trageser, Michelle A.
|
|
2014
|
95 |
6 |
p. 754-762
9 p.
|
artikel
|
| 10 |
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
|
Barbier, Mathieu
|
|
2014
|
95 |
6 |
p. 736-743
8 p.
|
artikel
|
| 11 |
Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
|
Malik, Sajid
|
|
2014
|
95 |
6 |
p. 649-659
11 p.
|
artikel
|
| 12 |
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
|
Kopajtich, Robert
|
|
2014
|
95 |
6 |
p. 708-720
13 p.
|
artikel
|
| 13 |
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology
|
Wilson, Gabrielle R.
|
|
2014
|
95 |
6 |
p. 729-735
7 p.
|
artikel
|
| 14 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
95 |
6 |
p. 635-636
2 p.
|
artikel
|
| 15 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
95 |
6 |
p. 633-634
2 p.
|
artikel
|
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