| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
|
Tan, Min-Han
|
|
2011
|
88 |
1 |
p. 42-56
15 p.
|
artikel
|
| 2 |
Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
|
Klopocki, Eva
|
|
2011
|
88 |
1 |
p. 70-75
6 p.
|
artikel
|
| 3 |
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
|
Moreno-De-Luca, Daniel
|
|
2011
|
88 |
1 |
p. 121-
1 p.
|
artikel
|
| 4 |
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
|
Sambuughin, Nyamkhishig
|
|
2011
|
88 |
1 |
p. 122-
1 p.
|
artikel
|
| 5 |
Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74
|
Ahmed, Zubair M.
|
|
2011
|
88 |
1 |
p. 19-29
11 p.
|
artikel
|
| 6 |
GCTA: A Tool for Genome-wide Complex Trait Analysis
|
Yang, Jian
|
|
2011
|
88 |
1 |
p. 76-82
7 p.
|
artikel
|
| 7 |
Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records
|
Kurreeman, Fina
|
|
2011
|
88 |
1 |
p. 57-69
13 p.
|
artikel
|
| 8 |
Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study
|
Lessard, Christopher J.
|
|
2011
|
88 |
1 |
p. 83-91
9 p.
|
artikel
|
| 9 |
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
|
Lanktree, Matthew B.
|
|
2011
|
88 |
1 |
p. 6-18
13 p.
|
artikel
|
| 10 |
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
|
Abouzeid, Hana
|
|
2011
|
88 |
1 |
p. 92-98
7 p.
|
artikel
|
| 11 |
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
|
Pippucci, Tommaso
|
|
2011
|
88 |
1 |
p. 115-120
6 p.
|
artikel
|
| 12 |
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
|
Thiel, Christian
|
|
2011
|
88 |
1 |
p. 106-114
9 p.
|
artikel
|
| 13 |
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
|
Okada, Ippei
|
|
2011
|
88 |
1 |
p. 30-41
12 p.
|
artikel
|
| 14 |
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
|
Guelly, Christian
|
|
2011
|
88 |
1 |
p. 99-105
7 p.
|
artikel
|
| 15 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2011
|
88 |
1 |
p. 3-5
3 p.
|
artikel
|
| 16 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2011
|
88 |
1 |
p. 1-2
2 p.
|
artikel
|
| 17 |
To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests
|
Li, Yun
|
|
2011
|
88 |
1 |
p. 122-
1 p.
|
artikel
|
Tijdschrift beschrijving