| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Highly Unstable Recent Mutation in Human mtDNA
|
Duggan, Ana T.
|
|
2013
|
92 |
2 |
p. 279-284
6 p.
|
artikel
|
| 2 |
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
|
Fares-Taie, Lucas
|
|
2013
|
92 |
2 |
p. 265-270
6 p.
|
artikel
|
| 3 |
Ancient Substructure in Early mtDNA Lineages of Southern Africa
|
Barbieri, Chiara
|
|
2013
|
92 |
2 |
p. 285-292
8 p.
|
artikel
|
| 4 |
Common Genetic Risk Factors for Venous Thrombosis in the Chinese Population
|
Tang, Liang
|
|
2013
|
92 |
2 |
p. 177-187
11 p.
|
artikel
|
| 5 |
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
|
Böhm, Johann
|
|
2013
|
92 |
2 |
p. 271-278
8 p.
|
artikel
|
| 6 |
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
|
Beunders, Gea
|
|
2013
|
92 |
2 |
p. 210-220
11 p.
|
artikel
|
| 7 |
Genetic Basis of Y-Linked Hearing Impairment
|
Wang, Qiuju
|
|
2013
|
92 |
2 |
p. 301-306
6 p.
|
artikel
|
| 8 |
Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
|
Parry, David A.
|
|
2013
|
92 |
2 |
p. 307-312
6 p.
|
artikel
|
| 9 |
Improved Detection of Common Variants Associated with Schizophrenia by Leveraging Pleiotropy with Cardiovascular-Disease Risk Factors
|
Andreassen, Ole A.
|
|
2013
|
92 |
2 |
p. 197-209
13 p.
|
artikel
|
| 10 |
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
|
Martin, Elodie
|
|
2013
|
92 |
2 |
p. 238-244
7 p.
|
artikel
|
| 11 |
LRIG2 Mutations Cause Urofacial Syndrome
|
Stuart, Helen M.
|
|
2013
|
92 |
2 |
p. 259-264
6 p.
|
artikel
|
| 12 |
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2
|
Moffatt, Pierre
|
|
2013
|
92 |
2 |
p. 252-258
7 p.
|
artikel
|
| 13 |
Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
|
Ronchi, Dario
|
|
2013
|
92 |
2 |
p. 293-300
8 p.
|
artikel
|
| 14 |
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
|
Hammer, Monia B.
|
|
2013
|
92 |
2 |
p. 245-251
7 p.
|
artikel
|
| 15 |
Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma
|
Srinivasan, Anupama
|
|
2013
|
92 |
2 |
p. 167-176
10 p.
|
artikel
|
| 16 |
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
|
Girirajan, Santhosh
|
|
2013
|
92 |
2 |
p. 221-237
17 p.
|
artikel
|
| 17 |
Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations
|
Amyere, Mustapha
|
|
2013
|
92 |
2 |
p. 188-196
9 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2013
|
92 |
2 |
p. 165-166
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2013
|
92 |
2 |
p. 163-164
2 p.
|
artikel
|
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