| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Genome-wide In Vitro Bacterial-Infection Screen Reveals Human Variation in the Host Response Associated with Inflammatory Disease
|
Ko, Dennis C.
|
|
2009
|
85 |
2 |
p. 214-227
14 p.
|
artikel
|
| 2 |
A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions
|
Tyynismaa, Henna
|
|
2009
|
85 |
2 |
p. 290-295
6 p.
|
artikel
|
| 3 |
CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment
|
Newbury, Dianne F.
|
|
2009
|
85 |
2 |
p. 264-272
9 p.
|
artikel
|
| 4 |
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
|
Živná, Martina
|
|
2009
|
85 |
2 |
p. 204-213
10 p.
|
artikel
|
| 5 |
Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.3
|
Tse, Ka-Po
|
|
2009
|
85 |
2 |
p. 194-203
10 p.
|
artikel
|
| 6 |
Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
|
Thiadens, Alberta A.H.J.
|
|
2009
|
85 |
2 |
p. 240-247
8 p.
|
artikel
|
| 7 |
Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function
|
Huzé, Caroline
|
|
2009
|
85 |
2 |
p. 155-167
13 p.
|
artikel
|
| 8 |
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice
|
Polito, Vinicia Assunta
|
|
2009
|
85 |
2 |
p. 296-301
6 p.
|
artikel
|
| 9 |
Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
|
Tucker, Tracy
|
|
2009
|
85 |
2 |
p. 142-154
13 p.
|
artikel
|
| 10 |
Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome
|
Riazuddin, Saima
|
|
2009
|
85 |
2 |
p. 273-280
8 p.
|
artikel
|
| 11 |
Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
|
Lausch, Ekkehart
|
|
2009
|
85 |
2 |
p. 168-178
11 p.
|
artikel
|
| 12 |
Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome
|
Klar, Joakim
|
|
2009
|
85 |
2 |
p. 248-253
6 p.
|
artikel
|
| 13 |
PRKCA: A Positional Candidate Gene for Body Mass Index and Asthma
|
Murphy, Amy
|
|
2009
|
85 |
2 |
p. 302-
1 p.
|
artikel
|
| 14 |
RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome
|
Basel-Vanagaite, Lina
|
|
2009
|
85 |
2 |
p. 254-263
10 p.
|
artikel
|
| 15 |
Skewed X Chromosome Inactivation and Trisomic Spontaneous Abortion: No Association
|
Warburton, Dorothy
|
|
2009
|
85 |
2 |
p. 179-193
15 p.
|
artikel
|
| 16 |
Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene
|
Renbaum, Paul
|
|
2009
|
85 |
2 |
p. 281-289
9 p.
|
artikel
|
| 17 |
The Ethics of Protocells—Moral and Social Implications of Creating Life in the Laboratory
|
Taylor, Patrick L.
|
|
2009
|
85 |
2 |
p. 140-141
2 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2009
|
85 |
2 |
p. 137-139
3 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2009
|
85 |
2 |
p. 135-136
2 p.
|
artikel
|
| 20 |
X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women
|
Siddiqui, Roman A.
|
|
2009
|
85 |
2 |
p. 228-239
12 p.
|
artikel
|
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