Suchergebnisse - "Nurden, Paquita"

PubPharm (4)

1

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

enthalten in: Nature genetics | 2012

von Albers, C. | Paul, D. | Schulze, H. | +28

2

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

enthalten in: Nature genetics | 2012

von Albers, C. | Paul, D. | Schulze, H. | +28

CommentIn: Clin Genet. 2012 Jul;82(1):29-30. - PMID 22486491

3

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

enthalten in: Nature genetics | 2011

von Albers, C. | Cvejic, A. | Favier, R. | +17

4

Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome

enthalten in: Nature genetics | 2011

von Albers, C. | Cvejic, A. | Favier, R. | +17

1
[1]