E-LIB Suche - Ergebnisse für: Weisschuh, N.

1

Clinical characteristics of gyrate atrophy compared with a ..:

Pauleikhoff, L. ; Weisschuh, N. ; Lentzsch, A....
European Journal of Ophthalmology. 34 (2023) 1 - p. 79-88 , 2023

Link: https://doi.org/10.1177/..

2

Variants in ASB10 are associated with open-angle glaucoma:

Pasutto, F. ; Keller, K. E. ; Weisschuh, N....
Human Molecular Genetics. 21 (2011) 6 - p. 1336-1349 , 2011

Link: https://doi.org/10.1093/..

3

A novel mutation in the FOXC1 gene in a family with Axenfel..:

Weisschuh, N ; Wolf, C ; Wissinger, B.
Clinical Genetics. 74 (2008) 5 - p. 476-480 , 2008

Link: https://doi.org/10.1111/..

4

Morphology of the sella turcica in Axenfeld–Rieger syndrome..:

Meyer‐Marcotty, P. ; Weisschuh, N. ; Dressler, P...
Journal of Oral Pathology & Medicine. 37 (2008) 8 - p. 504-510 , 2008

Link: https://doi.org/10.1111/..

5

Genome-Wide Association Study Identifies Two Common Loci As..:

Simcoe, MJ ; Shah, A ; Fan, B...
https://discovery.ucl.ac.uk/id/eprint/10141836/1/1-s2.0-S0161642022000227-main.pdf. , 2022

Link: https://discovery.ucl.ac..

6

X-linked retinitis pigmentosa caused by non-canonical splic..:

Kortüm, F ; Kieninger, S ; Mazzola, P...
info:eu-repo/semantics/altIdentifier/doi/10.3390/ijms22020850. , 2021

Link: https://push-zb.helmholt..

7

Dominant ACO2 mutations are a frequent cause of isolated op..:

Charif, M ; Gueguen, N ; Ferré, M...
https://discovery.ucl.ac.uk/id/eprint/10129233/1/fcab063.pdf. , 2021

Link: https://discovery.ucl.ac..

8

An Assessment of GUCA1C Variants in Primary Congenital Glau..:

Souzeau, E ; Weisschuh, N ; Craig, JE..
issn:2073-4425. , 2021

Link: http://hdl.handle.net/11..

9

ABCA4-associated disease as a model for missing heritabilit..:

Bauwens, M ; Garanto, A ; Sangermano, R...
https://discovery.ucl.ac.uk/id/eprint/10073733/1/Bauwens_VoR.pdf. , 2019

Link: https://discovery.ucl.ac..

10

Genetic association study of exfoliation syndrome identifie..:

Aung T ; Ozaki M ; Lee M. C...
info:eu-repo/semantics/altIdentifier/pmid/28553957. , 2017

Link: http://hdl.handle.net/11..

11

De novo intrachromosomal gene conversion from OPN1MW to OPN..:

Buena-Atienza, E ; Rüther, K ; Baumann, B...
issn:2045-2322. , 2016

Link: http://hdl.handle.net/11..

12

Mutation detection in patients with retinal dystrophies usi..:

Weisschuh, N ; Mayer, A.K ; Strom, T.M...
info:eu-repo/semantics/altIdentifier/doi/10.1371/journal.pone.0145951. , 2016

Link: https://push-zb.helmholt..

13

Genotype and phenotype in an unusual form of Laurence-Moon-..:

Kamme, C ; Mayer, A.K ; Strom, T.M..
info:eu-repo/semantics/altIdentifier/doi/10.1111/aos.13293. , 2016

Link: https://push-zb.helmholt..

14

Homozygosity mapping and whole-genome sequencing reveals a ..:

Mayer, A.K ; Rohrschneider, K ; Strom, T.M...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2015.144. , 2016

Link: https://push-zb.helmholt..

15

Common genetic determinants of intraocular pressure and pri..:

van Koolwijk, LM ; Ramdas, WD ; Ikram, MK...
https://discovery.ucl.ac.uk/id/eprint/1349062/1/1349062.pdf. , 2012

Link: https://discovery.ucl.ac..