| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis
|
Mitsuhashi, Satomi
|
|
2011
|
88 |
6 |
p. 845-851
7 p.
|
artikel
|
| 2 |
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
|
Abou Jamra, Rami
|
|
2011
|
88 |
6 |
p. 788-795
8 p.
|
artikel
|
| 3 |
A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma
|
Landi, Maria Teresa
|
|
2011
|
88 |
6 |
p. 861-
1 p.
|
artikel
|
| 4 |
A Revised Root for the Human Y Chromosomal Phylogenetic Tree: The Origin of Patrilineal Diversity in Africa
|
Cruciani, Fulvio
|
|
2011
|
88 |
6 |
p. 814-818
5 p.
|
artikel
|
| 5 |
Charles Joseph Epstein, M.D., 1933–2011, In Memoriam
|
Wynshaw-Boris, Anthony
|
|
2011
|
88 |
6 |
p. 684-688
5 p.
|
artikel
|
| 6 |
DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation
|
Gusev, Alexander
|
|
2011
|
88 |
6 |
p. 706-717
12 p.
|
artikel
|
| 7 |
Disease-Causing Mutations in Genes of the Complement System
|
Degn, Søren E.
|
|
2011
|
88 |
6 |
p. 689-705
17 p.
|
artikel
|
| 8 |
Effects of Natural Selection and Gene Conversion on the Evolution of Human Glycophorins Coding for MNS Blood Polymorphisms in Malaria-Endemic African Populations
|
Ko, Wen-Ya
|
|
2011
|
88 |
6 |
p. 741-754
14 p.
|
artikel
|
| 9 |
Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population
|
Shi, Yi
|
|
2011
|
88 |
6 |
p. 805-813
9 p.
|
artikel
|
| 10 |
Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1
|
Kiuru, Maija
|
|
2011
|
88 |
6 |
p. 839-844
6 p.
|
artikel
|
| 11 |
Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya
|
Miskinyte, Snaigune
|
|
2011
|
88 |
6 |
p. 718-728
11 p.
|
artikel
|
| 12 |
Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia
|
Fröjmark, Anne-Sophie
|
|
2011
|
88 |
6 |
p. 852-860
9 p.
|
artikel
|
| 13 |
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
|
Chen, Jianjun
|
|
2011
|
88 |
6 |
p. 827-838
12 p.
|
artikel
|
| 14 |
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
|
Burkitt Wright, Emma M.M.
|
|
2011
|
88 |
6 |
p. 767-777
11 p.
|
artikel
|
| 15 |
Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
|
Duff, Rachael M.
|
|
2011
|
88 |
6 |
p. 729-740
12 p.
|
artikel
|
| 16 |
Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
|
de Greef, Jessica C.
|
|
2011
|
88 |
6 |
p. 796-804
9 p.
|
artikel
|
| 17 |
RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
|
Cullinane, Andrew R.
|
|
2011
|
88 |
6 |
p. 778-787
10 p.
|
artikel
|
| 18 |
The Orphan Disease Networks
|
Zhang, Minlu
|
|
2011
|
88 |
6 |
p. 755-766
12 p.
|
artikel
|
| 19 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2011
|
88 |
6 |
p. 681-683
3 p.
|
artikel
|
| 20 |
This Month in The Journal
|
Bungartz, Kathryn D.
|
|
2011
|
88 |
6 |
p. 679-680
2 p.
|
artikel
|
| 21 |
X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3
|
Zhu, Hongwen
|
|
2011
|
88 |
6 |
p. 819-826
8 p.
|
artikel
|
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