| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval
|
Kapoor, Ashish
|
|
2014
|
94 |
6 |
p. 854-869
16 p.
|
artikel
|
| 2 |
Contrasting X-Linked and Autosomal Diversity across 14 Human Populations
|
Arbiza, Leonardo
|
|
2014
|
94 |
6 |
p. 827-844
18 p.
|
artikel
|
| 3 |
FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
|
Beaulieu, Chandree L.
|
|
2014
|
94 |
6 |
p. 809-817
9 p.
|
artikel
|
| 4 |
Janet Davison Rowley, M.D. (1925–2013)
|
Gollin, Susanne M.
|
|
2014
|
94 |
6 |
p. 805-808
4 p.
|
artikel
|
| 5 |
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations
|
Rainger, Joe
|
|
2014
|
94 |
6 |
p. 915-923
9 p.
|
artikel
|
| 6 |
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness
|
Perrault, Isabelle
|
|
2014
|
94 |
6 |
p. 891-897
7 p.
|
artikel
|
| 7 |
Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome
|
Gee, Heon Yung
|
|
2014
|
94 |
6 |
p. 884-890
7 p.
|
artikel
|
| 8 |
Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
|
Failler, Marion
|
|
2014
|
94 |
6 |
p. 905-914
10 p.
|
artikel
|
| 9 |
Neu-Laxova Syndrome, an Inborn Error of Serine Metabolism, Is Caused by Mutations in PHGDH
|
Shaheen, Ranad
|
|
2014
|
94 |
6 |
p. 898-904
7 p.
|
artikel
|
| 10 |
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
|
Jarvik, Gail P.
|
|
2014
|
94 |
6 |
p. 818-826
9 p.
|
artikel
|
| 11 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
94 |
6 |
p. 803-804
2 p.
|
artikel
|
| 12 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
94 |
6 |
p. 801-802
2 p.
|
artikel
|
| 13 |
Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
|
Blumenthal, Ian
|
|
2014
|
94 |
6 |
p. 870-883
14 p.
|
artikel
|
| 14 |
Utilizing Population Controls in Rare-Variant Case-Parent Association Tests
|
Jiang, Yu
|
|
2014
|
94 |
6 |
p. 845-853
9 p.
|
artikel
|
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