| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Congenital imprinting disorders: Application of multilocus and high throughput methods to decipher new pathomechanisms and improve their management
|
Soellner, Lukas
|
|
2015
|
29 |
5 |
p. 282-290
9 p.
|
artikel
|
| 2 |
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
|
Köhler, Cornelia
|
|
2015
|
29 |
5 |
p. 319-322
4 p.
|
artikel
|
| 3 |
Editorial Board/Copyright/Publication Information
|
|
|
2015
|
29 |
5 |
p. IFC-
1 p.
|
artikel
|
| 4 |
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
|
Kuechler, Alma
|
|
2015
|
29 |
5 |
p. 330-334
5 p.
|
artikel
|
| 5 |
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline
|
Granzow, M.
|
|
2015
|
29 |
5 |
p. 323-329
7 p.
|
artikel
|
| 6 |
Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges
|
Hoffjan, Sabine
|
|
2015
|
29 |
5 |
p. 259-
1 p.
|
artikel
|
| 7 |
Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
|
Vona, Barbara
|
|
2015
|
29 |
5 |
p. 260-270
11 p.
|
artikel
|
| 8 |
Recurrent null mutation in SPG20 leads to Troyer syndrome
|
Tawamie, Hasan
|
|
2015
|
29 |
5 |
p. 315-318
4 p.
|
artikel
|
| 9 |
Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing
|
Knopp, C.
|
|
2015
|
29 |
5 |
p. 299-307
9 p.
|
artikel
|
| 10 |
Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing
|
Herbst, S.M.
|
|
2015
|
29 |
5 |
p. 291-298
8 p.
|
artikel
|
| 11 |
Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies
|
Waldmüller, Stephan
|
|
2015
|
29 |
5 |
p. 308-314
7 p.
|
artikel
|
| 12 |
What next-generation sequencing (NGS) technology has enabled us to learn about primary autosomal recessive microcephaly (MCPH)
|
Morris-Rosendahl, Deborah J.
|
|
2015
|
29 |
5 |
p. 271-281
11 p.
|
artikel
|
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