| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
|
Feichtinger, René G.
|
|
2017
|
101 |
4 |
p. 525-538
|
artikel
|
| 2 |
Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest
|
Chen, Biaobang
|
|
2017
|
101 |
4 |
p. 609-615
|
artikel
|
| 3 |
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
|
Myers, Candace T.
|
|
2017
|
101 |
4 |
p. 516-524
|
artikel
|
| 4 |
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
|
Watson, Lauren M.
|
|
2017
|
101 |
4 |
p. 638
|
artikel
|
| 5 |
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders
|
Quinodoz, Mathieu
|
|
2017
|
101 |
4 |
p. 623-629
|
artikel
|
| 6 |
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
|
Paul, Antoine
|
|
2017
|
101 |
4 |
p. 630-637
|
artikel
|
| 7 |
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2
|
Maddirevula, Sateesh
|
|
2017
|
101 |
4 |
p. 603-608
|
artikel
|
| 8 |
Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport
|
Kim, Hye In
|
|
2017
|
101 |
4 |
p. 489-502
|
artikel
|
| 9 |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
|
Stankiewicz, Paweł
|
|
2017
|
101 |
4 |
p. 503-515
|
artikel
|
| 10 |
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
|
De Mori, Roberta
|
|
2017
|
101 |
4 |
p. 552-563
|
artikel
|
| 11 |
Leveraging Multi-ethnic Evidence for Risk Assessment of Quantitative Traits in Minority Populations
|
Coram, Marc A.
|
|
2017
|
101 |
4 |
p. 638
|
artikel
|
| 12 |
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk
|
Richardson, Tom G.
|
|
2017
|
101 |
4 |
p. 590-602
|
artikel
|
| 13 |
Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies
|
Benner, Christian
|
|
2017
|
101 |
4 |
p. 539-551
|
artikel
|
| 14 |
RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
|
Demaerel, Wolfram
|
|
2017
|
101 |
4 |
p. 616-622
|
artikel
|
| 15 |
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans
|
Dannemann, Michael
|
|
2017
|
101 |
4 |
p. 578-589
|
artikel
|
| 16 |
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
|
Loviglio, Maria Nicla
|
|
2017
|
101 |
4 |
p. 564-577
|
artikel
|
| 17 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
101 |
4 |
p. 487-488
|
artikel
|
| 18 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
101 |
4 |
p. 485-486
|
artikel
|
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