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Bibliographic Details
Title:Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
From: 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: Mauri, Lucia
Verfasser
aut
Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, Andre
Pasutto, Francesca
Main Authors: Mauri, Lucia (Author), Uebe, Steffen (Author), Sticht, Heinrich (Author), Vossmerbaeumer, Urs (Author), Weisschuh, Nicole (Author), Manfredini, Emanuela (Author), Maselli, Edoardo (Author), Patrosso, Mariacristina (Author), Weinreb, Robert N. (Author), Penco, Silvana (Author), Reis, Andre (Author), Pasutto, Francesca (Author)
Format: Electronic eBook
Language:English
Published: Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016
Subjects:
Congenital glaucoma
Early onset glaucoma
Osteogenesis imperfecta
Whole exome sequencing
Online Access:https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80912
http://d-nb.info/1123284733/34
https://open.fau.de/handle/openfau/8091
Item Description:Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0495-y>
Physical Description:Online-Ressource
Format:Langzeitarchivierung gewährleistet, LZA
Staff View

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700 1 |a Penco, Silvana  |e Verfasser  |4 aut 
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Record in the Search Index

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Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, Andre
Pasutto, Francesca
author_facet Mauri, Lucia
Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, Andre
Pasutto, Francesca
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Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma 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
Erlangen Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) 2016
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Aus: Orphanet Journal of Rare Diseases 11 (2016). <http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0495-y>
Langzeitarchivierung gewährleistet, LZA
Congenital glaucoma
Early onset glaucoma
Osteogenesis imperfecta
Whole exome sequencing
Uebe, Steffen Verfasser aut
Sticht, Heinrich Verfasser aut
Vossmerbaeumer, Urs Verfasser aut
Weisschuh, Nicole Verfasser aut
Manfredini, Emanuela Verfasser aut
Maselli, Edoardo Verfasser aut
Patrosso, Mariacristina Verfasser aut
Weinreb, Robert N. Verfasser aut
Penco, Silvana Verfasser aut
Reis, Andre Verfasser aut
Pasutto, Francesca Verfasser aut
https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80912 Resolving-System kostenfrei Volltext
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spellingShingle Mauri, Lucia
Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, Andre
Pasutto, Francesca
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_auth Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_exact_search Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_full Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma 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
title_fullStr Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma 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
title_full_unstemmed Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma 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
title_short Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
title_sort expanding the clinical spectrum of col1a1 mutations in different forms of glaucoma
url https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-80912
http://d-nb.info/1123284733/34
https://open.fau.de/handle/openfau/8091
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