E-LIB Suche - Ergebnisse für: van Steensel, Maurice A. M.

1

Familial multiple discoid fibromas is linked to a locus on ..:

van de Beek, Irma ; Glykofridis, Iris E. ; Tanck, Michael W. T....
Journal of Human Genetics. 68 (2023) 4 - p. 273-279 , 2023

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

2

Author Correction: Lrig1-expressing epidermal progenitors r..:

Lim, Sophia Beng Hui ; Wei, Shang ; Tan, Andy Hee-Meng..
Scientific Reports. 13 (2023) 1 - p. , 2023

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

3

Lrig1-expressing epidermal progenitors require SCD1 to main..:

Lim, Sophia Beng Hui ; Wei, Shang ; Tan, Andy Hee-Meng..
Scientific Reports. 13 (2023) 1 - p. , 2023

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

4

Germline intergenic duplications at Xq26.1 underlie Bazex–D..:

Liu, Yanshan ; Banka, Siddharth ; Huang, Yingzhi...
British Journal of Dermatology. 187 (2022) 6 - p. 948-961 , 2022

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

5

Combined germline pathogenic variants in FLCN and TP53 are ..:

van de Beek, Irma ; Glykofridis, Iris E. ; Wagner, Anja...
Molecular Genetics & Genomic Medicine. 11 (2022) 2 - p. , 2022

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

6

Huriez syndrome: Additional pathogenic variants supporting ..:

Loh, Abigail Y. T. ; Špoljar, Sanja ; Neo, Granville Y. W....
American Journal of Medical Genetics Part A. 188 (2022) 6 - p. 1752-1760 , 2022

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

7

Comment on Balsamo et al.: Birt-Hogg-Dubé syndrome with sim..:

van de Beek, Irma ; van Steensel, Maurice A. M. ; Houweling, Arjan C.
BMC Medical Genomics. 15 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

8

Cutibacteriumacnes: Much ado about maybe nothing much:

van Steensel, Maurice A. M. ; Goh, Boon Chong
Experimental Dermatology. 30 (2021) 10 - p. 1471-1476 , 2021

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

9

Neuroendocrinology and neurobiology of sebaceous glands:

Clayton, Richard W. ; Langan, Ewan A. ; Ansell, David M....
Biological Reviews. 95 (2020) 3 - p. 592-624 , 2020

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

10

The novel zebrafish model pretzel demonstrates a central ro..:

de Vos, Ivo J. H. M. ; Wong, Arnette Shi Wei ; Taslim, Jason...
Biology Open. , 2020

Link: https://doi.org/10.1242/..

11

Multicentric osteolytic syndromes represent a phenotypic sp..:

de Vos, Ivo J. H. M. ; Wong, Arnette Shi Wei ; Welting, Tim J. M...
American Journal of Medical Genetics Part A. 179 (2019) 8 - p. 1652-1664 , 2019

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

12

Functional analysis of a hypomorphic allele shows that MMP1..:

de Vos, Ivo J H M ; Tao, Evelyn Yaqiong ; Ong, Sheena Li Ming...
Human Molecular Genetics. 27 (2018) 16 - p. 2775-2788 , 2018

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

13

Role of the keratin 1 and keratin 10 tails in the pathogene..:

Terrinoni, Alessandro ; Didona, Biagio ; Caporali, Sabrina...
PLOS ONE. 13 (2018) 4 - p. e0195792 , 2018

Link: https://doi.org/10.1371/..

14

A rare missense mutation in GJB3 (Cx31G45E) is associated w..:

Easton, Jennifer A. ; Albuloushi, Ahmad K. ; Kamps, Miriam A. F....
Experimental Dermatology. 28 (2018) 10 - p. 1106-1113 , 2018

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

15

Kidney cancer characteristics and genotype-phenotype-correl..:

Sattler, Elke C. ; Reithmair, Marlene ; Steinlein, Ortrud K..
PLOS ONE. 13 (2018) 12 - p. e0209504 , 2018

Link: https://doi.org/10.1371/..