| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy
|
Roosing, Susanne
|
|
2014
|
95 |
2 |
p. 131-142
12 p.
|
artikel
|
| 2 |
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38
|
Di Gregorio, Eleonora
|
|
2014
|
95 |
2 |
p. 209-217
9 p.
|
artikel
|
| 3 |
Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis
|
Smith, Joshua D.
|
|
2014
|
95 |
2 |
p. 235-240
6 p.
|
artikel
|
| 4 |
Fine Mapping Major Histocompatibility Complex Associations in Psoriasis and Its Clinical Subtypes
|
Okada, Yukinori
|
|
2014
|
95 |
2 |
p. 162-172
11 p.
|
artikel
|
| 5 |
Identification and Validation of Genetic Variants that Influence Transcription Factor and Cell Signaling Protein Levels
|
Hause, Ronald J.
|
|
2014
|
95 |
2 |
p. 194-208
15 p.
|
artikel
|
| 6 |
Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy
|
Aldinger, Kimberly A.
|
|
2014
|
95 |
2 |
p. 227-234
8 p.
|
artikel
|
| 7 |
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
|
Campbell, Ian M.
|
|
2014
|
95 |
2 |
p. 173-182
10 p.
|
artikel
|
| 8 |
Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results
|
Tabor, Holly K.
|
|
2014
|
95 |
2 |
p. 183-193
11 p.
|
artikel
|
| 9 |
SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
|
Agrawal, Pankaj B.
|
|
2014
|
95 |
2 |
p. 218-226
9 p.
|
artikel
|
| 10 |
The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
|
Boone, Philip M.
|
|
2014
|
95 |
2 |
p. 143-161
19 p.
|
artikel
|
| 11 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2014
|
95 |
2 |
p. 129-130
2 p.
|
artikel
|
| 12 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2014
|
95 |
2 |
p. 127-128
2 p.
|
artikel
|
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