| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors
|
Kimura, Ryosuke
|
|
2009
|
85 |
4 |
p. 528-535
8 p.
|
artikel
|
| 2 |
A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles
|
Ayub, Muhammad
|
|
2009
|
85 |
4 |
p. 515-520
6 p.
|
artikel
|
| 3 |
Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
|
Köhler, Sebastian
|
|
2009
|
85 |
4 |
p. 457-464
8 p.
|
artikel
|
| 4 |
Ethics and Newborn Genetic Screening: New Technologies, New Challenges
|
Miller, Fiona Alice
|
|
2009
|
85 |
4 |
p. 426-
1 p.
|
artikel
|
| 5 |
Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
|
zur Stadt, Udo
|
|
2009
|
85 |
4 |
p. 482-492
11 p.
|
artikel
|
| 6 |
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
|
Stankiewicz, Pawel
|
|
2009
|
85 |
4 |
p. 537-
1 p.
|
artikel
|
| 7 |
Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma
|
Pasutto, Francesca
|
|
2009
|
85 |
4 |
p. 447-456
10 p.
|
artikel
|
| 8 |
Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function
|
Huzé, Caroline
|
|
2009
|
85 |
4 |
p. 536-
1 p.
|
artikel
|
| 9 |
Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA
|
Coffee, Bradford
|
|
2009
|
85 |
4 |
p. 503-514
12 p.
|
artikel
|
| 10 |
Integration of Genomic and Genetic Approaches Implicates IREB2 as a COPD Susceptibility Gene
|
DeMeo, Dawn L.
|
|
2009
|
85 |
4 |
p. 493-502
10 p.
|
artikel
|
| 11 |
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
|
Coene, Karlien L.M.
|
|
2009
|
85 |
4 |
p. 465-481
17 p.
|
artikel
|
| 12 |
PPIB Mutations Cause Severe Osteogenesis Imperfecta
|
van Dijk, Fleur S.
|
|
2009
|
85 |
4 |
p. 521-527
7 p.
|
artikel
|
| 13 |
Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
|
Tavtigian, Sean V.
|
|
2009
|
85 |
4 |
p. 427-446
20 p.
|
artikel
|
| 14 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2009
|
85 |
4 |
p. 423-425
3 p.
|
artikel
|
| 15 |
This Month in The Journal
|
Williamson, Robin E.
|
|
2009
|
85 |
4 |
p. 421-422
2 p.
|
artikel
|
Tijdschrift beschrijving