التفاصيل البيبلوغرافية
| العنوان: |
Genetical, clinical and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4 |
| المؤلفون: |
Ballin, Nadja, Hotz, Alrun, 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, Ingrid, Zimmer, Andreas D., Alter, Svenja, Fischer, Judith |
| سنة النشر: |
2019 |
| المجموعة: |
Istituto Nazionale di Fisica Nucleare (INFN): Open Access Repository |
| مصطلحات موضوعية: |
Genetics(clinical), Genetics |
| الوصف: |
n/a |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| العلاقة: |
url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/30958Test |
| DOI: |
10.1002/humu.23883 |
| الإتاحة: |
https://doi.org/10.1002/humu.23883Test
https://www.openaccessrepository.it/record/30958Test |
| حقوق: |
info:eu-repo/semantics/openAccess ; https://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.B05EC372 |
| قاعدة البيانات: |
BASE |
