| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accurate and Fast Multiple-Testing Correction in eQTL Studies
|
Sul, Jae Hoon
|
|
2015
|
96 |
6 |
p. 857-868
12 p.
|
artikel
|
| 2 |
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
|
Mencacci, Niccolo E.
|
|
2015
|
96 |
6 |
p. 938-947
10 p.
|
artikel
|
| 3 |
Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement
|
El-Asrag, Mohammed E.
|
|
2015
|
96 |
6 |
p. 948-954
7 p.
|
artikel
|
| 4 |
Comprehensively Evaluating cis-Regulatory Variation in the Human Prostate Transcriptome by Using Gene-Level Allele-Specific Expression
|
Larson, Nicholas B.
|
|
2015
|
96 |
6 |
p. 869-882
14 p.
|
artikel
|
| 5 |
Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
|
Zamani Esteki, Masoud
|
|
2015
|
96 |
6 |
p. 894-912
19 p.
|
artikel
|
| 6 |
De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies
|
Hansen, Jeanne
|
|
2015
|
96 |
6 |
p. 1009-
1 p.
|
artikel
|
| 7 |
Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy
|
Dazzo, Emanuela
|
|
2015
|
96 |
6 |
p. 992-1000
9 p.
|
artikel
|
| 8 |
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
|
Munns, Craig F.
|
|
2015
|
96 |
6 |
p. 971-978
8 p.
|
artikel
|
| 9 |
Improved Ancestry Estimation for both Genotyping and Sequencing Data using Projection Procrustes Analysis and Genotype Imputation
|
Wang, Chaolong
|
|
2015
|
96 |
6 |
p. 926-937
12 p.
|
artikel
|
| 10 |
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
|
Johnston, Jennifer J.
|
|
2015
|
96 |
6 |
p. 913-925
13 p.
|
artikel
|
| 11 |
Jump from Pre-mutation to Pathologic Expansion in C9orf72
|
Xi, Zhengrui
|
|
2015
|
96 |
6 |
p. 962-970
9 p.
|
artikel
|
| 12 |
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
|
Thomas, Anna C.
|
|
2015
|
96 |
6 |
p. 1008-1009
2 p.
|
artikel
|
| 13 |
Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia
|
Hira, Asuka
|
|
2015
|
96 |
6 |
p. 1001-1007
7 p.
|
artikel
|
| 14 |
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
|
Ravenscroft, Gianina
|
|
2015
|
96 |
6 |
p. 955-961
7 p.
|
artikel
|
| 15 |
Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
|
Zech, Michael
|
|
2015
|
96 |
6 |
p. 883-893
11 p.
|
artikel
|
| 16 |
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
|
Mendoza-Londono, Roberto
|
|
2015
|
96 |
6 |
p. 979-985
7 p.
|
artikel
|
| 17 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
96 |
6 |
p. 855-856
2 p.
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
96 |
6 |
p. 853-854
2 p.
|
artikel
|
| 19 |
Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians
|
Pagani, Luca
|
|
2015
|
96 |
6 |
p. 986-991
6 p.
|
artikel
|
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