Suchergebnisse - "Shah, Amna Z"

PubPharm (16)

1

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

enthalten in: PLoS genetics | 2020

von Waseem, N. | Low, S. | Shah, A. | +24

2

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

enthalten in: bioRxiv.org | 2020

von Holthaus, S. | Martin-Herranz, S. | Massaro, G. | +12

3

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

enthalten in: Human molecular genetics | 2019

von Kleine Holthaus, S. | Herranz-Martin, S. | Massaro, G. | +12

4

First insights into the expression of VAX2 in humans and its localization in the adult primate retina

enthalten in: Experimental eye research | 2016

von Alfano, G. | Shah, A. | Jeffery, G. | +1

5

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

enthalten in: Scientific reports | 2016

von Rose, A. | Shah, A. | Venturini, G. | +4

6

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene

enthalten in: PloS one | 2016

von Czub, B. | Shah, A. | Alfano, G. | +3

7

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

enthalten in: PloS one | 2016

von Alfano, G. | Kruczek, P. | Shah, A. | +4

8

First insights into the expression of VAX2 in humans and its localization in the adult primate retina

enthalten in: Experimental eye research | 2016

von Alfano, G. | Shah, A. | Jeffery, G. | +1

9

Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa : a novel phenomenon of "linked trans-acting epistasis"

enthalten in: Annals of human genetics | 2014

von Rose, A. | Shah, A. | Venturini, G. | +3

10

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans‐Acting Epistasis”

enthalten in: Annals of human genetics | 2014

von Rose, A. | Shah, A. | Venturini, G. | +3