| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
|
Powers, Natalie R.
|
|
2014
|
94 |
5 |
p. 798-
1 p.
|
artikel
|
| 2 |
AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking
|
Setta-Kaffetzi, Niovi
|
|
2014
|
94 |
5 |
p. 790-797
8 p.
|
artikel
|
| 3 |
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
|
Sergouniotis, Panagiotis I.
|
|
2014
|
94 |
5 |
p. 760-769
10 p.
|
artikel
|
| 4 |
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
|
Pinto, Dalila
|
|
2014
|
94 |
5 |
p. 677-694
18 p.
|
artikel
|
| 5 |
De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
|
Xia, Fan
|
|
2014
|
94 |
5 |
p. 784-789
6 p.
|
artikel
|
| 6 |
Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
|
Ordulu, Zehra
|
|
2014
|
94 |
5 |
p. 695-709
15 p.
|
artikel
|
| 7 |
Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans
|
Humbert, Camille
|
|
2014
|
94 |
5 |
p. 799-
1 p.
|
artikel
|
| 8 |
Maternal History of Oceania from Complete mtDNA Genomes: Contrasting Ancient Diversity with Recent Homogenization Due to the Austronesian Expansion
|
Duggan, Ana T.
|
|
2014
|
94 |
5 |
p. 721-733
13 p.
|
artikel
|
| 9 |
Maximizing the Power of Principal-Component Analysis of Correlated Phenotypes in Genome-wide Association Studies
|
Aschard, Hugues
|
|
2014
|
94 |
5 |
p. 662-676
15 p.
|
artikel
|
| 10 |
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
|
Vulto-van Silfhout, Anneke T.
|
|
2014
|
94 |
5 |
p. 649-661
13 p.
|
artikel
|
| 11 |
Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome
|
Patel, Nisha
|
|
2014
|
94 |
5 |
p. 755-759
5 p.
|
artikel
|
| 12 |
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
|
McMillin, Margaret J.
|
|
2014
|
94 |
5 |
p. 734-744
11 p.
|
artikel
|
| 13 |
Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome
|
Lindstrand, Anna
|
|
2014
|
94 |
5 |
p. 745-754
10 p.
|
artikel
|
| 14 |
Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland
|
Wang, Sophie R.
|
|
2014
|
94 |
5 |
p. 710-720
11 p.
|
artikel
|
| 15 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
94 |
5 |
p. 647-648
2 p.
|
artikel
|
| 16 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
94 |
5 |
p. 645-646
2 p.
|
artikel
|
| 17 |
Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data
|
Wang, Gao T.
|
|
2014
|
94 |
5 |
p. 770-783
14 p.
|
artikel
|
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