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  1. Article ; Online: Patients with autosomal recessive congenital ichthyosis present a distinctive pattern of alopecia.

    Challamel, C / Hernandez-Martin, A / Tchitchiama, C / Jonca, N / Rossel, S V J / Gostyński, A / Mazereeuw-Hautier, J

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2023  Volume 37, Issue 11, Page(s) e1274–e1276

    MeSH term(s) Humans ; Ichthyosis, Lamellar/genetics ; Alopecia/complications ; Alopecia/genetics ; Genes, Recessive
    Language English
    Publishing date 2023-07-14
    Publishing country England
    Document type Letter
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.19246
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3492: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 413: Show issues

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  2. Article ; Online: Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

    Rossel, S V J / Clabbers, J M K / Steijlen, P M / van den Akker, P C / Spuls, P I / Middelkamp Hup, M A / van Maarle, M C / Vreeburg, M / Bolling, M C / van Geel, M / Gostyński, A

    Journal of the European Academy of Dermatology and Venereology : JEADV

    2023  Volume 37, Issue 12, Page(s) e1405–e1409

    MeSH term(s) Humans ; Acyltransferases ; Genes, Recessive ; Ichthyosis, Lamellar/genetics ; Mutation ; Phospholipases
    Chemical Substances Acyltransferases (EC 2.3.-) ; Phospholipases (EC 3.1.-) ; PNPLA1 protein, human (EC 3.1.1.3) ; NIPAL4 protein, human
    Language English
    Publishing date 2023-07-24
    Publishing country England
    Document type Letter
    ZDB-ID 1128828-0
    ISSN 1468-3083 ; 0926-9959
    ISSN (online) 1468-3083
    ISSN 0926-9959
    DOI 10.1111/jdv.19340
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3492: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 413: Show issues

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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