Nicole Weisschuh und Mutation - Info zur Person

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A World Without Color – Researchers Find Gene Mutation That Strips...

today.ucsd.edu

Co-authors include: Ditta Zobor, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Susanne C. Beck, Marina Garcia Garrido, ...

Pressedienst 05. April 2017: Netzhauterkrankung: …

www.presse.uni-oldenburg.de

· Farina Vocke, Nicole Weisschuh, Valerio Marino, Silvia Malfatti, Samuel G. Jacobson, Charlotte M. Reiff, Daniele Dell’Orco & Karl-Wilhelm Koch (2017). Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1. Human Molecular Genetics Vol. 26, No. 1, 133–144. Weblinks

OPUS FAU | Expanding the clinical spectrum of COL1A1 mutations in...

www.opus4.kobv.de

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Please always quote using this URN: urn:nbn:de:bvb:29-opus · Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, ...

DNB, Katalog der Deutschen Nationalbibliothek

portal.dnb.de

· Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma / by Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, Mariacristina Patrosso, Robert N. Weinreb, Silvana Penco, André Reis, Francesca Pasutto Person(en)

Mutation Detection in Patients with Retinal Dystrophies ...

opus.bibliothek.uni-wuerzburg.de

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD.

Mutation spectrum of the OPA1 gene in a large cohort of patients ...journals.plos.org › plosone › article › authors › jour...

journals.plos.org

· Nicole Weisschuh, · Simone Schimpf-Linzenbold, · Pascale Mazzola, · Sinja Kieninger, · Ting Xiao, · Ulrich Kellner, · Teresa Neuhann, … · Carina ...

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling ...europepmc.org › pmc › bin › mmc1

europepmc.org

Francesca Pasutto,1 Tomoya Matsumoto,5 Christian Y. Mardin,2 Heinrich Sticht,3 Johann H. Brandstätter,4 Karin Michels-Rautenstrauss,1 Nicole Weisschuh,6 ...

New color blindness cause identified: Finding suggests potential...

www.sciencedaily.com

A rare eye disorder marked by color blindness, light sensitivity, and other vision problems can result from a newly discovered gene mutation identified by an...

Details der Publikation - Mutation detection in patients with retinal...

katalog.ub.tu-braunschweig.de

Mutation detection in patients with retinal dystrophies using targeted next generation sequencing / Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl ...

Kooperationen — Carl von Ossietzky Universität …

uol.de

National. Dr. Nicole Weisschuh, Molecular Genetics Laboratory, University of Tübingen, Germany, Project: Mutations in the GUCA1A gene and impact on guanylate cyclase activity Prof. Dr. Bernd Wissinger (Molecular Genetics Laboratory, University of Tübingen, Germany). Project: Mutations in the GUCA1A gene and impact on guanylate cyclase activity ...

Mutation Detection in Patients with Retinal Dystrophies Using ...opus.bibliothek.uni-wuerzburg.de › index › index › year › docId

opus.bibliothek.uni-wuerzburg.de

· Nicole Weisschuh, Anja K. Mayer, Tim M. Strom, Susanne Kohl, Nicola Glöckle, Max Schubach, Sten Andreasson, Antje Bernd, David G. Birch, ...

Collaborations // University of Oldenburg

uol.de

Dr. Nicole Weisschuh, Molecular Genetics Laboratory, University of Tübingen, Germany, Project: Mutations in the GUCA1A gene and impact on guanylate cyclase ...

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are...

www.infona.pl

Nicole Weisschuh. Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, ...

Altmetric – Mutations in the unfolded protein response regulator ATF6...

www.altmetric.com

Susanne Kohl, Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Stanley Chang, ...

An augmented ABCA4 screen targeting noncoding regions reveals a deep...

lib.ugent.be

Miriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, Susanne Kohl, Françoise Meire and 9 more (2015) HUMAN MUTATION. Autosomal-recessive Stargardt ...

Expanding the clinical spectrum of COL1A1 mutations in different...

www.infona.pl

Lucia Mauri, Steffen Uebe, Heinrich Sticht, Urs Vossmerbaeumer, Nicole Weisschuh, Emanuela Manfredini, Edoardo Maselli, … [ more ]. Details · Contributors ...

Mutation screening in patients with retinal dystrophies using a...

iovs.arvojournals.org

Free. ARVO Annual Meeting Abstract | April Mutation screening in patients with retinal dystrophies using a Panel-based Next Generation Sequencing approach. Nicole Weisschuh; Anja-Kathrin Mayer; Nicola Gloeckle; Susanne Kohl; Saskia Biskup; Bernd Wissinger. Author Affiliations & Notes. Nicole Weisschuh.

(PDF) Novel C8orf37 mutations cause retinitis pigmentosa in...

www.academia.edu

... C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin Zeinab Ravesh,1,2 Mohammed E. El Asrag,3,4 Nicole Weisschuh,2 Martin McKibbin,5 Peggy Reuter,2 Christopher M. Watson,6 Britta Baumann,2 James A. Poulter,3 Sundus Sajid,1 Evangelia S. Panagiotou,3 James O'Sullivan,7 ...

Susanne Kohl
Jennifer Staller
André Reis

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Stefan Herms
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Vorname "Nicole" (64806)
Name "Weisschuh" (8)

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Nicole Weisschuh und Mutation Person-Info

A World Without Color – Researchers Find Gene Mutation That Strips...

Pressedienst 05. April 2017: Netzhauterkrankung: …

OPUS FAU | Expanding the clinical spectrum of COL1A1 mutations in...

DNB, Katalog der Deutschen Nationalbibliothek

Mutation Detection in Patients with Retinal Dystrophies ...

Mutation spectrum of the OPA1 gene in a large cohort of patients ...journals.plos.org › plosone › article › authors › jour...

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling ...europepmc.org › pmc › bin › mmc1

New color blindness cause identified: Finding suggests potential...

Details der Publikation - Mutation detection in patients with retinal...

Kooperationen — Carl von Ossietzky Universität …

Mutation Detection in Patients with Retinal Dystrophies Using ...opus.bibliothek.uni-wuerzburg.de › index › index › year › docId

Collaborations // University of Oldenburg

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are...

Altmetric – Mutations in the unfolded protein response regulator ATF6...

An augmented ABCA4 screen targeting noncoding regions reveals a deep...

Expanding the clinical spectrum of COL1A1 mutations in different...

Mutation screening in patients with retinal dystrophies using a...

(PDF) Novel C8orf37 mutations cause retinitis pigmentosa in...

Mutation Detection in Patients with Retinal Dystrophies Using...

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous...

OPUS FAU | Expanding the clinical spectrum of COL1A1 mutations in...

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are...

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