| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
|
Zeharia, Avraham
|
|
2010
|
86 |
2 |
p. 295-
1 p.
|
artikel
|
| 2 |
Allelic Skewing of DNA Methylation Is Widespread across the Genome
|
Schalkwyk, Leonard C.
|
|
2010
|
86 |
2 |
p. 196-212
17 p.
|
artikel
|
| 3 |
A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans
|
Stattin, Eva-Lena
|
|
2010
|
86 |
2 |
p. 126-137
12 p.
|
artikel
|
| 4 |
Announcement
|
|
|
2010
|
86 |
2 |
p. 296-
1 p.
|
artikel
|
| 5 |
Association of JAG1 with Bone Mineral Density and Osteoporotic Fractures: A Genome-wide Association Study and Follow-up Replication Studies
|
Kung, Annie W.C.
|
|
2010
|
86 |
2 |
p. 229-239
11 p.
|
artikel
|
| 6 |
Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene
|
Levy-Litan, Varda
|
|
2010
|
86 |
2 |
p. 273-278
6 p.
|
artikel
|
| 7 |
Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
|
Iqbal, Zafar
|
|
2010
|
86 |
2 |
p. 254-261
8 p.
|
artikel
|
| 8 |
Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability
|
Ruano, Dina
|
|
2010
|
86 |
2 |
p. 113-125
13 p.
|
artikel
|
| 9 |
Genetic Dilemmas and the Right to an Open Future
|
Bredenoord, Annelien
|
|
2010
|
86 |
2 |
p. 108-
1 p.
|
artikel
|
| 10 |
Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene
|
Jakkula, Eveliina
|
|
2010
|
86 |
2 |
p. 285-291
7 p.
|
artikel
|
| 11 |
Germline Nonsense Mutation and Somatic Inactivation of SMARCA4/BRG1 in a Family with Rhabdoid Tumor Predisposition Syndrome
|
Schneppenheim, Reinhard
|
|
2010
|
86 |
2 |
p. 279-284
6 p.
|
artikel
|
| 12 |
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
|
Schraders, Margit
|
|
2010
|
86 |
2 |
p. 138-147
10 p.
|
artikel
|
| 13 |
Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation
|
Edvardson, Simon
|
|
2010
|
86 |
2 |
p. 294-
1 p.
|
artikel
|
| 14 |
Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
|
Lorenz-Depiereux, Bettina
|
|
2010
|
86 |
2 |
p. 267-272
6 p.
|
artikel
|
| 15 |
Mapping Allele-Specific DNA Methylation: A New Tool for Maximizing Information from GWAS
|
Tycko, Benjamin
|
|
2010
|
86 |
2 |
p. 109-112
4 p.
|
artikel
|
| 16 |
Mutations in Grxcr1 Are The Basis for Inner Ear Dysfunction in the Pirouette Mouse
|
Odeh, Hana
|
|
2010
|
86 |
2 |
p. 148-160
13 p.
|
artikel
|
| 17 |
Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa
|
Wang, Hui
|
|
2010
|
86 |
2 |
p. 293-
1 p.
|
artikel
|
| 18 |
Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly
|
Giannandrea, Maila
|
|
2010
|
86 |
2 |
p. 185-195
11 p.
|
artikel
|
| 19 |
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
|
Poulter, James A.
|
|
2010
|
86 |
2 |
p. 248-253
6 p.
|
artikel
|
| 20 |
Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy
|
Nikopoulos, Konstantinos
|
|
2010
|
86 |
2 |
p. 240-247
8 p.
|
artikel
|
| 21 |
No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation
|
Payne, Aimee S.
|
|
2010
|
86 |
2 |
p. 292-
1 p.
|
artikel
|
| 22 |
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
|
Bolduc, Véronique
|
|
2010
|
86 |
2 |
p. 213-221
9 p.
|
artikel
|
| 23 |
Response to Payne
|
Ahmad, Wasim
|
|
2010
|
86 |
2 |
p. 292-
1 p.
|
artikel
|
| 24 |
Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia
|
Doherty, Leana
|
|
2010
|
86 |
2 |
p. 222-228
7 p.
|
artikel
|
| 25 |
ROADTRIPS: Case-Control Association Testing with Partially or Completely Unknown Population and Pedigree Structure
|
Thornton, Timothy
|
|
2010
|
86 |
2 |
p. 172-184
13 p.
|
artikel
|
| 26 |
The Distribution and Most Recent Common Ancestor of the 17q21 Inversion in Humans
|
Donnelly, Michael P.
|
|
2010
|
86 |
2 |
p. 161-171
11 p.
|
artikel
|
| 27 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2010
|
86 |
2 |
p. 105-107
3 p.
|
artikel
|
| 28 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2010
|
86 |
2 |
p. 103-104
2 p.
|
artikel
|
| 29 |
Warsaw Breakage Syndrome, a Cohesinopathy Associated with Mutations in the XPD Helicase Family Member DDX11/ChlR1
|
van der Lelij, Petra
|
|
2010
|
86 |
2 |
p. 262-266
5 p.
|
artikel
|
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