E-LIB Suche - Ergebnisse für: Cesarato, Nicole

1

Novel pathogenic variants in HR underlie atrichia with papu..:

Ullah, Kifayat ; Ahmed, Sohail ; Cesarato, Nicole...
The Journal of Dermatology. , 2024

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

2

First East Asian case of uncombable hair syndrome:

Li, Ye ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. , 2024

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

3

A nonsense variant in KRT31 is associated with autosomal do..:

Xiong, Xing ; Cesarato, Nicole ; Gossmann, Yasmina...
British Journal of Dermatology. , 2024

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

4

A TMC8 splice variant causes epidermodysplasia verruciformi..:

Xiong, Xing ; Uddin, Syed Ashraf ; Munir, Sobia...
Clinical and Experimental Dermatology. 48 (2023) 4 - p. 434-437 , 2023

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

5

Short anagen hair syndrome: association with mono- and bial..:

Cesarato, Nicole ; Schwieger-Briel, Agnes ; Gossmann, Yasmina...
British Journal of Dermatology. 189 (2023) 6 - p. 741-749 , 2023

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

6

Phenotype diversity associated with TP63 mutations:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20 (2022) 6 - p. 872-875 , 2022

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

7

Phänotypische Vielfalt bei Varianten im TP63‐Gen:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 20 (2022) 6 - p. 871-875 , 2022

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

8

A newde novoheterozygous missense mutation in the desmoplak..:

Ou, Sokounthie ; Cesarato, Nicole ; Mauran, Pierre...
Clinical and Experimental Dermatology. 47 (2022) 7 - p. 1424-1426 , 2022

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

9

Four hypotrichosis families with mutations in the gene LSS ..:

Cesarato, Nicole ; Wehner, Maria ; Ghughunishvili, Mariam...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3900-3904 , 2021

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

10

Loss-of-function variants in C3ORF52 result in localized au..:

Malki, Liron ; Sarig, Ofer ; Cesarato, Nicole...
Genetics in Medicine. 22 (2020) 7 - p. 1227-1234 , 2020

Link: https://doi.org/10.1038/..

11

Identification and characterisation of genes for hair disor..:

Cesarato, Nicole
info:eu-repo/semantics/altIdentifier/urn/urn:nbn:de:hbz:5-76359. , 2024

Link: https://hdl.handle.net/2..

12

Short anagen hair syndrome: association with mono- and bial..:

Cesarato, Nicole ; Schwieger-Briel, Agnes ; Gossmann, Yasmina...
https://resolver.sub.uni-goettingen.de/purl?gro-2/133015. , 2023

Link: https://resolver.sub.uni..

13

Phenotype diversity associated with TP63 mutations:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
1610-0379. , 2022

Link: https://resolver.sub.uni..

14

Phänotypische Vielfalt bei Varianten im TP63 ‐Gen:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
1610-0379. , 2022

Link: https://resolver.sub.uni..

15

Assessment of the Genetic Spectrum of Uncombable Hair Syndr..:

Basmanav, F. Buket ; Cesarato, Nicole ; Kumar, Sheetal...
https://portal.findresearcher.sdu.dk/da/publications/ebed0024-a1b4-4a6f-a38e-4b8ca033ad8a. , 2022

Link: https://portal.findresea..