| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
|
Carmona, F. David
|
|
2017
|
100 |
1 |
p. 64-74
11 p.
|
artikel
|
| 2 |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
|
Chao, Hsiao-Tuan
|
|
2017
|
100 |
1 |
p. 128-137
10 p.
|
artikel
|
| 3 |
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
|
Miyatake, Satoko
|
|
2017
|
100 |
1 |
p. 169-178
10 p.
|
artikel
|
| 4 |
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
|
Carss, Keren J.
|
|
2017
|
100 |
1 |
p. 75-90
16 p.
|
artikel
|
| 5 |
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
|
Sleven, Hannah
|
|
2017
|
100 |
1 |
p. 138-150
13 p.
|
artikel
|
| 6 |
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
|
|
|
2017
|
100 |
1 |
p. 179-
1 p.
|
artikel
|
| 7 |
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
|
Shashi, Vandana
|
|
2017
|
100 |
1 |
p. 179-
1 p.
|
artikel
|
| 8 |
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors
|
Ahola-Olli, Ari V.
|
|
2017
|
100 |
1 |
p. 40-50
11 p.
|
artikel
|
| 9 |
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis
|
van Rooij, Frank J.A.
|
|
2017
|
100 |
1 |
p. 51-63
13 p.
|
artikel
|
| 10 |
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
|
Guo, Dong-chuan
|
|
2017
|
100 |
1 |
p. 21-30
10 p.
|
artikel
|
| 11 |
Mixed Model Association with Family-Biased Case-Control Ascertainment
|
Hayeck, Tristan J.
|
|
2017
|
100 |
1 |
p. 31-39
9 p.
|
artikel
|
| 12 |
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
|
Harms, Frederike Leonie
|
|
2017
|
100 |
1 |
p. 117-127
11 p.
|
artikel
|
| 13 |
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
|
Mattioli, Francesca
|
|
2017
|
100 |
1 |
p. 105-116
12 p.
|
artikel
|
| 14 |
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
|
Ait-El-Mkadem, Samira
|
|
2017
|
100 |
1 |
p. 151-159
9 p.
|
artikel
|
| 15 |
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
|
Paff, Tamara
|
|
2017
|
100 |
1 |
p. 160-168
9 p.
|
artikel
|
| 16 |
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
|
Yan, Kezhi
|
|
2017
|
100 |
1 |
p. 91-104
14 p.
|
artikel
|
| 17 |
Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes
|
Shen, Qiancheng
|
|
2017
|
100 |
1 |
p. 5-20
16 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
100 |
1 |
p. 3-4
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
100 |
1 |
p. 1-2
2 p.
|
artikel
|
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