| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
|
Habarou, Florence
|
|
2017
|
101 |
2 |
p. 283-290
|
artikel
|
| 2 |
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
|
Lake, Nicole J.
|
|
2017
|
101 |
2 |
p. 239-254
|
artikel
|
| 3 |
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
|
Zepeda-Mendoza, Cinthya J.
|
|
2017
|
101 |
2 |
p. 206-217
|
artikel
|
| 4 |
Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences
|
Haber, Marc
|
|
2017
|
101 |
2 |
p. 274-282
|
artikel
|
| 5 |
CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions
|
Gasperini, Molly
|
|
2017
|
101 |
2 |
p. 192-205
|
artikel
|
| 6 |
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
|
Guella, Ilaria
|
|
2017
|
101 |
2 |
p. 300-310
|
artikel
|
| 7 |
From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health
|
Riordan, Jesse D.
|
|
2017
|
101 |
2 |
p. 177-191
|
artikel
|
| 8 |
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
|
Edvardson, Simon
|
|
2017
|
101 |
2 |
p. 267-273
|
artikel
|
| 9 |
Human Germline Genome Editing
|
Ormond, Kelly E.
|
|
2017
|
101 |
2 |
p. 167-176
|
artikel
|
| 10 |
Leveraging Multi-ethnic Evidence for Risk Assessment of Quantitative Traits in Minority Populations
|
Coram, Marc A.
|
|
2017
|
101 |
2 |
p. 218-226
|
artikel
|
| 11 |
Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage
|
Betts, Joshua A.
|
|
2017
|
101 |
2 |
p. 255-266
|
artikel
|
| 12 |
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
|
Manousaki, Despoina
|
|
2017
|
101 |
2 |
p. 227-238
|
artikel
|
| 13 |
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
|
Milev, Miroslav P.
|
|
2017
|
101 |
2 |
p. 291-299
|
artikel
|
| 14 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2017
|
101 |
2 |
p. 161-162
|
artikel
|
| 15 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2017
|
101 |
2 |
p. 159-160
|
artikel
|
| 16 |
William J. “Jack” Schull (1922–2017): Gentleman, Scientist
|
Weiss, Kenneth M.
|
|
2017
|
101 |
2 |
p. 163-166
|
artikel
|
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