E-LIB Suche - Ergebnisse für: Alrun Hotz

1

Hereditary epidermolytic palmoplantar keratosis due to a no..:

Koschitzki, Kevin ; Kurz, Bernadett ; Schreml, Julia...
Clinical Case Reports. 12 (2024) 5 - p. , 2024

Link: https://doi.org/10.1002/..

2

Autosomal Dominant Lamellar Ichthyosis Due to a Missense Va..:

Komlosi, Katalin ; Glocker, Cristina ; Hsu-Rehder, Hao-Hsiang...
Journal of Investigative Dermatology. , 2024

Link: https://doi.org/10.1016/..

3

Pseudoainhum and universal alopecia:

Schneider, Lisa C. ; Hotz, Alrun ; Gugelmeier, Moritz..
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. , 2024

Link: https://doi.org/10.1111/..

4

Erythrokeratodermia Variabilis-like Phenotype in Patients C..:

Hotz, Alrun ; Fölster-Holst, Regina ; Oji, Vinzenz...
Genes. 15 (2024) 3 - p. 288 , 2024

Link: https://doi.org/10.3390/..

5

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenoty..:

Hotz, Alrun ; Kopp, Julia ; Bourrat, Emmanuelle...
Genes. 14 (2023) 3 - p. 717 , 2023

Link: https://doi.org/10.3390/..

6

Syndromic ichthyoses:

Fischer, Judith ; Hotz, Alrun ; Komlosi, Katalin
Medizinische Genetik. 35 (2023) 1 - p. 23-32 , 2023

Link: https://doi.org/10.1515/..

7

Epidermolysis bullosa simplex caused by a rare homozygous m..:

Olbrich, Henning ; Hotz, Alrun ; Fischer, Judith.
Clinical and Experimental Dermatology. 48 (2023) 11 - p. 1295-1297 , 2023

Link: https://doi.org/10.1093/..

8

Epidemiology of inherited epidermolysis bullosa in Germany:

Has, Cristina ; Hess, Moritz ; Anemüller, Waltraud...
Journal of the European Academy of Dermatology and Venereology. 37 (2022) 2 - p. 402-410 , 2022

Link: https://doi.org/10.1111/..

9

Obsessive–compulsive symptoms in ACTG1-associated Baraitser..:

Göbel, Theresa ; Berninger, Lea ; Schlump, Andrea...
Journal of Neural Transmission. 129 (2022) 11 - p. 1387-1391 , 2022

Link: https://doi.org/10.1007/..

10

The Importance of Extended Analysis Using Current Molecular..:

Resch, Luise D. ; Hotz, Alrun ; Zimmer, Andreas D....
Genes. 12 (2021) 10 - p. 1483 , 2021

Link: https://doi.org/10.3390/..

11

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified ..:

Hotz, Alrun ; Kopp, Julia ; Bourrat, Emmanuelle...
Genes. 12 (2021) 1 - p. 80 , 2021

Link: https://doi.org/10.3390/..

12

Maternal Isodisomy of Chromosome 3 Combined with a De Novo ..:

Kopp, Julia ; Has, Cristina ; Hotz, Alrun..
Genes. 12 (2021) 8 - p. 1164 , 2021

Link: https://doi.org/10.3390/..

13

Neonatal presentation of COG6‐CDG with prominent skin pheno..:

Komlosi, Katalin ; Gläser, Selina ; Kopp, Julia...
JIMD Reports. 55 (2020) 1 - p. 51-58 , 2020

Link: https://doi.org/10.1002/..

14

Genetical, clinical, and functional analysis of a large int..:

Ballin, Nadja ; Hotz, Alrun ; Bourrat, Emmanuelle...
Human Mutation. 40 (2019) 12 - p. 2318-2333 , 2019

Link: https://doi.org/10.1002/..

15

Novel VPS33B mutation in a patient with autosomal recessive..:

Alter, Svenja ; Hotz, Alrun ; Jahn, Arne...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2862-2866 , 2018

Link: https://doi.org/10.1002/..