| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
|
Carvalho, Claudia M.B.
|
|
2015
|
96 |
4 |
p. 555-564
10 p.
|
artikel
|
| 2 |
A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility
|
Carmona, F. David
|
|
2015
|
96 |
4 |
p. 565-580
16 p.
|
artikel
|
| 3 |
A Statistical Approach for Rare-Variant Association Testing in Affected Sibships
|
Epstein, Michael P.
|
|
2015
|
96 |
4 |
p. 543-554
12 p.
|
artikel
|
| 4 |
Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring
|
de Pagter, Mirjam S.
|
|
2015
|
96 |
4 |
p. 651-656
6 p.
|
artikel
|
| 5 |
De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies
|
Hansen, Jeanne
|
|
2015
|
96 |
4 |
p. 682-690
9 p.
|
artikel
|
| 6 |
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
|
White, Janson
|
|
2015
|
96 |
4 |
p. 612-622
11 p.
|
artikel
|
| 7 |
Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability
|
Jiang, Qian
|
|
2015
|
96 |
4 |
p. 581-596
16 p.
|
artikel
|
| 8 |
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
|
Zhang, Ling
|
|
2015
|
96 |
4 |
p. 597-611
15 p.
|
artikel
|
| 9 |
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
|
Simons, Cas
|
|
2015
|
96 |
4 |
p. 675-681
7 p.
|
artikel
|
| 10 |
Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism
|
Germain, Marine
|
|
2015
|
96 |
4 |
p. 532-542
11 p.
|
artikel
|
| 11 |
Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome
|
Bunn, Kieran J.
|
|
2015
|
96 |
4 |
p. 623-630
8 p.
|
artikel
|
| 12 |
Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
|
Charlesworth, Gavin
|
|
2015
|
96 |
4 |
p. 657-665
9 p.
|
artikel
|
| 13 |
Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome
|
van Rahden, Vanessa A.
|
|
2015
|
96 |
4 |
p. 640-650
11 p.
|
artikel
|
| 14 |
Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
|
Gordon, Christopher T.
|
|
2015
|
96 |
4 |
p. 519-531
13 p.
|
artikel
|
| 15 |
Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy
|
Scheidecker, Sophie
|
|
2015
|
96 |
4 |
p. 666-674
9 p.
|
artikel
|
| 16 |
Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
|
Fares-Taie, Lucas
|
|
2015
|
96 |
4 |
p. 631-639
9 p.
|
artikel
|
| 17 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
96 |
4 |
p. 517-518
2 p.
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
96 |
4 |
p. 515-516
2 p.
|
artikel
|
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