E-LIB Suche - Ergebnisse für: Kelsell, D. P.

1

Early inflammation precedes cardiac fibrosis and heart fail..:

Ng, K. E. ; Delaney, P. J. ; Thenet, D....
Cell and Tissue Research. 386 (2021) 1 - p. 79-98 , 2021

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

2

DSP mutations and arrhythmogenic cardiomyopathy:

Maruthappu, T. ; Posafalvi, A. ; Castelletti, S....
British Journal of Dermatology. 180 (2019) 5 - p. , 2019

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

3

Loss‐of‐function desmoplakin I and II mutations underlie do..:

Maruthappu, T. ; Posafalvi, A. ; Castelletti, S....
British Journal of Dermatology. 180 (2019) 5 - p. 1114-1122 , 2019

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

4

DSP 突变与致心律失常性心肌病:

Maruthappu, T. ; Posafalvi, A. ; Castelletti, S....
British Journal of Dermatology. 180 (2019) 5 - p. , 2019

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

5

A novel homozygous nonsense mutation in CAST associated wit..:

Temel, Şehime Gülsün ; Karakaş, B. ; Şeker, Ü....
Cell and Tissue Research. 378 (2019) 2 - p. 267-277 , 2019

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

6

P5709Hair and cutaneous phenotypes linked to Arrhythmogenic..:

Castelletti, S ; Maruthappu, T ; Posafalvi, A...
European Heart Journal. 39 (2018) suppl_1 - p. , 2018

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

7

Noonan syndrome with multiple lentigines and associated cra..:

McDonald, B. S. ; Pigors, M. ; Kelsell, D. P....
Clinical and Experimental Dermatology. 43 (2018) 3 - p. 357-359 , 2018

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

8

A profile of lipid dysregulation in harlequin ichthyosis:

Ip, S.C.I. ; Cottle, D.L. ; Jones, L.K....
British Journal of Dermatology. 177 (2017) 5 - p. , 2017

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

9

Cardiomyopathy diagnosed in the eldest child harbouring p.S..:

Boente, M. del C. ; Nanda, A. ; Baselaga, P.A....
British Journal of Dermatology. 175 (2016) 3 - p. 644-646 , 2016

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

10

Cover image: Unpeeling the layers of harlequin ichthyosis:

Harris, A.G. ; Choy, C. ; Pigors, M...
British Journal of Dermatology. 174 (2016) 5 - p. 1160-1161 , 2016

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

11

A severe collodion phenotype in the newborn period associat..:

Bland, P.J. ; Chronnell, C. ; Plagnol, V...
British Journal of Dermatology. 173 (2015) 1 - p. 285-287 , 2015

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

12

Acral peeling skin syndrome associated with a novelCSTAgene..:

Muttardi, K. ; Nitoiu, D. ; Kelsell, D. P...
Clinical and Experimental Dermatology. 41 (2015) 4 - p. 394-398 , 2015

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

13

Recessive oligodontia linked to a homozygous loss-of-functi..:

AlFawaz, S. ; Fong, F. ; Plagnol, V....
Archives of Oral Biology. 58 (2013) 5 - p. 462-466 , 2013

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

14

Assessing Noncoding Sequence Variants of GJB2 for Hearing L..:

Matos, T. D. ; Simões-Teixeira, H. ; Caria, H....
Genetics Research International. 2011 (2011) - p. 1-8 , 2011

Link: https://doi.org/10.4061/..

15

Novel and recurrent connexin 30.3 and connexin 31 mutations..:

Scott, C. A. ; O'Toole, E. A. ; Mohungoo, M. J...
Clinical and Experimental Dermatology. 36 (2011) 1 - p. 88-90 , 2011

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