| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
|
Bassuk, Alexander G.
|
|
2008
|
83 |
5 |
p. 572-581
10 p.
|
artikel
|
| 2 |
Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation
|
Gurnett, Christina A.
|
|
2008
|
83 |
5 |
p. 616-622
7 p.
|
artikel
|
| 3 |
ATM Gene Mutations Result in Both Recessive and Dominant Expression Phenotypes of Genes and MicroRNAs
|
Smirnov, Denis A.
|
|
2008
|
83 |
5 |
p. 657-
1 p.
|
artikel
|
| 4 |
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
|
Noor, Abdul
|
|
2008
|
83 |
5 |
p. 656-
1 p.
|
artikel
|
| 5 |
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
|
Gorden, Nicholas T.
|
|
2008
|
83 |
5 |
p. 559-571
13 p.
|
artikel
|
| 6 |
DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
|
Loges, Niki Tomas
|
|
2008
|
83 |
5 |
p. 547-558
12 p.
|
artikel
|
| 7 |
Genetic Mapping of Glutaric Aciduria, Type 3, to Chromosome 7 and Identification of Mutations in C7orf10
|
Sherman, Eric A.
|
|
2008
|
83 |
5 |
p. 604-609
6 p.
|
artikel
|
| 8 |
Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE
|
Bertram, Lars
|
|
2008
|
83 |
5 |
p. 623-632
10 p.
|
artikel
|
| 9 |
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
|
Collin, Rob W.J.
|
|
2008
|
83 |
5 |
p. 594-603
10 p.
|
artikel
|
| 10 |
Identifying Genetic Traces of Historical Expansions: Phoenician Footprints in the Mediterranean
|
Zalloua, Pierre A.
|
|
2008
|
83 |
5 |
p. 633-642
10 p.
|
artikel
|
| 11 |
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia
|
Edvardson, Simon
|
|
2008
|
83 |
5 |
p. 643-648
6 p.
|
artikel
|
| 12 |
Runs of Homozygosity in European Populations
|
McQuillan, Ruth
|
|
2008
|
83 |
5 |
p. 658-
1 p.
|
artikel
|
| 13 |
TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
|
Lausch, Ekkehart
|
|
2008
|
83 |
5 |
p. 649-655
7 p.
|
artikel
|
| 14 |
The Distribution of Mitochondrial DNA Heteroplasmy Due to Random Genetic Drift
|
Wonnapinij, Passorn
|
|
2008
|
83 |
5 |
p. 582-593
12 p.
|
artikel
|
| 15 |
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
|
Robinson, Peter N.
|
|
2008
|
83 |
5 |
p. 610-615
6 p.
|
artikel
|
| 16 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2008
|
83 |
5 |
p. 545-546
2 p.
|
artikel
|
| 17 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2008
|
83 |
5 |
p. 543-544
2 p.
|
artikel
|
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