| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection
|
Yoon, Song-Ro
|
|
2013
|
92 |
6 |
p. 917-926
10 p.
|
artikel
|
| 2 |
A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
|
Cheung, Yee Him
|
|
2013
|
92 |
6 |
p. 996-1000
5 p.
|
artikel
|
| 3 |
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
|
Malfait, Fransiska
|
|
2013
|
92 |
6 |
p. 935-945
11 p.
|
artikel
|
| 4 |
Detecting and Characterizing Genomic Signatures of Positive Selection in Global Populations
|
Liu, Xuanyao
|
|
2013
|
92 |
6 |
p. 866-881
16 p.
|
artikel
|
| 5 |
Enhanced Localization of Genetic Samples through Linkage-Disequilibrium Correction
|
Baran, Yael
|
|
2013
|
92 |
6 |
p. 882-894
13 p.
|
artikel
|
| 6 |
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
|
Unger, Sheila
|
|
2013
|
92 |
6 |
p. 990-995
6 p.
|
artikel
|
| 7 |
Frank Ruddle (1929–2013)
|
Kucherlapati, Raju
|
|
2013
|
92 |
6 |
p. 839-840
2 p.
|
artikel
|
| 8 |
Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations
|
Coram, Marc A.
|
|
2013
|
92 |
6 |
p. 904-916
13 p.
|
artikel
|
| 9 |
Germline BAP1 Mutations Predispose to Renal Cell Carcinomas
|
Popova, Tatiana
|
|
2013
|
92 |
6 |
p. 974-980
7 p.
|
artikel
|
| 10 |
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
|
Xi, Zhengrui
|
|
2013
|
92 |
6 |
p. 981-989
9 p.
|
artikel
|
| 11 |
Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease
|
Wei, Zhi
|
|
2013
|
92 |
6 |
p. 1008-1012
5 p.
|
artikel
|
| 12 |
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
|
Peeters, Kristien
|
|
2013
|
92 |
6 |
p. 955-964
10 p.
|
artikel
|
| 13 |
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
|
Nakajima, Masahiro
|
|
2013
|
92 |
6 |
p. 927-934
8 p.
|
artikel
|
| 14 |
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
|
Oates, Emily C.
|
|
2013
|
92 |
6 |
p. 965-973
9 p.
|
artikel
|
| 15 |
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
|
Neveling, Kornelia
|
|
2013
|
92 |
6 |
p. 946-954
9 p.
|
artikel
|
| 16 |
Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
|
Martignetti, John A.
|
|
2013
|
92 |
6 |
p. 1001-1007
7 p.
|
artikel
|
| 17 |
Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease
|
Li, Ming
|
|
2013
|
92 |
6 |
p. 895-903
9 p.
|
artikel
|
| 18 |
Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease
|
Li, Ming
|
|
2013
|
92 |
6 |
p. 1014-
1 p.
|
artikel
|
| 19 |
Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls
|
|
|
2013
|
92 |
6 |
p. 854-865
12 p.
|
artikel
|
| 20 |
Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections
|
Prakash, Siddharth K.
|
|
2013
|
92 |
6 |
p. 1013-
1 p.
|
artikel
|
| 21 |
Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants
|
Ionita-Laza, Iuliana
|
|
2013
|
92 |
6 |
p. 841-853
13 p.
|
artikel
|
| 22 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
92 |
6 |
p. 837-838
2 p.
|
artikel
|
| 23 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
92 |
6 |
p. 835-836
2 p.
|
artikel
|
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