| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Additive Genetic Variation in Schizophrenia Risk Is Shared by Populations of African and European Descent
|
de Candia, Teresa R.
|
|
2013
|
93 |
3 |
p. 463-470
8 p.
|
artikel
|
| 2 |
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
|
Yu, Hung-Chun
|
|
2013
|
93 |
3 |
p. 506-514
9 p.
|
artikel
|
| 3 |
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
|
Basel-Vanagaite, Lina
|
|
2013
|
93 |
3 |
p. 524-529
6 p.
|
artikel
|
| 4 |
BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
|
Wooderchak-Donahue, Whitney L.
|
|
2013
|
93 |
3 |
p. 530-537
8 p.
|
artikel
|
| 5 |
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
|
Nakamura, Kazuyuki
|
|
2013
|
93 |
3 |
p. 496-505
10 p.
|
artikel
|
| 6 |
Diversity of Lactase Persistence Alleles in Ethiopia: Signature of a Soft Selective Sweep
|
Jones, Bryony L.
|
|
2013
|
93 |
3 |
p. 538-544
7 p.
|
artikel
|
| 7 |
DrGaP: A Powerful Tool for Identifying Driver Genes and Pathways in Cancer Sequencing Studies
|
Hua, Xing
|
|
2013
|
93 |
3 |
p. 439-451
13 p.
|
artikel
|
| 8 |
Genetic Evidence for Recent Population Mixture in India
|
Moorjani, Priya
|
|
2013
|
93 |
3 |
p. 422-438
17 p.
|
artikel
|
| 9 |
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations
|
Franceschini, Nora
|
|
2013
|
93 |
3 |
p. 545-554
10 p.
|
artikel
|
| 10 |
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
|
Kott, Esther
|
|
2013
|
93 |
3 |
p. 561-570
10 p.
|
artikel
|
| 11 |
Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes
|
Genovese, Giulio
|
|
2013
|
93 |
3 |
p. 411-421
11 p.
|
artikel
|
| 12 |
Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
|
Cacciagli, Pierre
|
|
2013
|
93 |
3 |
p. 579-586
8 p.
|
artikel
|
| 13 |
Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
|
Shamseldin, Hanan E.
|
|
2013
|
93 |
3 |
p. 555-560
6 p.
|
artikel
|
| 14 |
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
|
Bonnen, Penelope E.
|
|
2013
|
93 |
3 |
p. 471-481
11 p.
|
artikel
|
| 15 |
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
|
Gai, Xiaowu
|
|
2013
|
93 |
3 |
p. 482-495
14 p.
|
artikel
|
| 16 |
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
|
Manes, Gaël
|
|
2013
|
93 |
3 |
p. 571-578
8 p.
|
artikel
|
| 17 |
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
|
McInerney-Leo, Aideen M.
|
|
2013
|
93 |
3 |
p. 515-523
9 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
93 |
3 |
p. 409-410
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
93 |
3 |
p. 407-408
2 p.
|
artikel
|
| 20 |
Whole-Genome Sequencing Uncovers the Genetic Basis of Chronic Mountain Sickness in Andean Highlanders
|
Zhou, Dan
|
|
2013
|
93 |
3 |
p. 452-462
11 p.
|
artikel
|
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