Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Anmerkungen
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online resource.
- Erschienen in
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Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma ; volume:11 ; number:1 ; day:2 ; month:8 ; year:2016 ; pages:1-12 ; date:12.2016
Orphanet journal of rare diseases ; 11, Heft 1 (2.8.2016), 1-12, 12.2016
- Urheber
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Mauri, Lucia
- Beteiligte Personen und Organisationen
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Uebe, Steffen
Sticht, Heinrich
Vossmerbaeumer, Urs
Weisschuh, Nicole
Manfredini, Emanuela
Maselli, Edoardo
Patrosso, Mariacristina
Weinreb, Robert N.
Penco, Silvana
Reis, André
Pasutto, Francesca
SpringerLink (Online service)
- DOI
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10.1186/s13023-016-0495-y
- URN
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urn:nbn:de:1111-2016080312459
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
- 14.08.2025, 10:50 MESZ
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Beteiligte
- Mauri, Lucia
- Uebe, Steffen
- Sticht, Heinrich
- Vossmerbaeumer, Urs
- Weisschuh, Nicole
- Manfredini, Emanuela
- Maselli, Edoardo
- Patrosso, Mariacristina
- Weinreb, Robert N.
- Penco, Silvana
- Reis, André
- Pasutto, Francesca
- SpringerLink (Online service)
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Expanding spectrum of “spitzoid” lesions: a small series of 4 cases with MAP2K1 mutations
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Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
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