Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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In: Human Mutation. 2019;40:2318–2333. doi:10.1002/humu.23883
- Ereignis
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Veröffentlichung
- (wo)
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Würzburg
- (wer)
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Universität Würzburg
- (wann)
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2020
- Urheber
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Ballin, Nadja
Hotz, Alrun Göntje
Bourrat, Emmanuelle
Küsel, Julia
Oji, Vinzenz
Bouadjar, Bakar
Brognoli, Davide
Hickman, Geoffroy
Heinz, Lisa
Vabres, Pierre
Marrakchi, Slaheddine
Leclerc‐Mercier, Stéphanie
Irvine, Alan
Tadini, Gianluca
Hamm, Henning
Has, Cristina
Blume‐Peytavi, Ulrike
Mitter, Diana
Reitenbach, Marina
Haußer-Siller, Ingrid
Zimmer, Andreas D.
Alter, Svenja
Fischer, Judith
- DOI
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10.1002/humu.23883
- URN
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urn:nbn:de:bvb:20-opus-212747
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
- 15.08.2025, 05:33 UTC
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Beteiligte
- Ballin, Nadja
- Hotz, Alrun Göntje
- Bourrat, Emmanuelle
- Küsel, Julia
- Oji, Vinzenz
- Bouadjar, Bakar
- Brognoli, Davide
- Hickman, Geoffroy
- Heinz, Lisa
- Vabres, Pierre
- Marrakchi, Slaheddine
- Leclerc‐Mercier, Stéphanie
- Irvine, Alan
- Tadini, Gianluca
- Hamm, Henning
- Has, Cristina
- Blume‐Peytavi, Ulrike
- Mitter, Diana
- Reitenbach, Marina
- Haußer-Siller, Ingrid
- Zimmer, Andreas D.
- Alter, Svenja
- Fischer, Judith
- Universität Würzburg
Entstanden
- 2020
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