E-LIB Suche - Ergebnisse für: Onoufriadis, A.

1

A germline mutation in the platelet-derived growth factor r..:

Onoufriadis, A ; Boulouadnine, Boutaina ; Dachy, Guillaume...
boreal:249244. , 2021

2

WNT10A, dermatology and dentistry:

Doolan, B. J ; Onoufriadis, A ; Kantaputra, P.
Doolan , B J , Onoufriadis , A , Kantaputra , P & McGrath , J A 2021 , ' WNT10A, dermatology and dentistry ' , British Journal of Dermatology , vol. 185 , no. 6 , pp. 1105-1111 . https://doi.org/10.1111/bjd.20601. , 2021

Link: https://kclpure.kcl.ac.u..

3

WNT10A, dermatology and dentistry:

Doolan, B. J ; Onoufriadis, A ; Kantaputra, P.
Doolan , B J , Onoufriadis , A , Kantaputra , P & McGrath , J A 2021 , ' WNT10A, dermatology and dentistry ' , British Journal of Dermatology , vol. 185 , no. 6 , pp. 1105-1111 . https://doi.org/10.1111/bjd.20601. , 2021

Link: https://kclpure.kcl.ac.u..

4

A germline mutation in the platelet-derived growth factor r..:

Onoufriadis, A ; Boulouadnine, Boutaina ; Dachy, Guillaume...
boreal:249244. , 2021

Link: http://hdl.handle.net/20..

5

Genetic analysis in three Egyptian patients with Griscelli ..:

Abd Elmaksoud, M. S ; Gomaa, N. S ; Azouz, H. G...
Abd Elmaksoud , M S , Gomaa , N S , Azouz , H G , On , C N V , Ho , C T , Omar , T E , McGrath , J A & Onoufriadis , A 2020 , ' Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A ' , Clinical and Experimental Dermatology , vol. 45 , no. 6 , pp. 789-792 . https://doi.org/10.1111/ced.14220. , 2020

Link: https://kclpure.kcl.ac.u..

6

Genetic analysis in three Egyptian patients with Griscelli ..:

Abd Elmaksoud, M. S ; Gomaa, N. S ; Azouz, H. G...
Abd Elmaksoud , M S , Gomaa , N S , Azouz , H G , On , C N V , Ho , C T , Omar , T E , McGrath , J A & Onoufriadis , A 2020 , ' Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A ' , Clinical and Experimental Dermatology , vol. 45 , no. 6 , pp. 789-792 . https://doi.org/10.1111/ced.14220. , 2020

Link: https://kclpure.kcl.ac.u..

7

A decade of next-generation sequencing in genodermatoses:th..:

Chiu, F. P.C ; Doolan, B. J ; McGrath, J. A.
Chiu , F P C , Doolan , B J , McGrath , J A & Onoufriadis , A 2020 , ' A decade of next-generation sequencing in genodermatoses : the impact on gene discovery and clinical diagnostics ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.19384. , 2020

Link: https://kclpure.kcl.ac.u..

8

Prevalence, pathophysiology and management of itch in epide..:

Papanikolaou, M ; Onoufriadis, A ; Mellerio, J. E...
Papanikolaou , M , Onoufriadis , A , Mellerio , J E , Nattkemper , L A , Yosipovitch , G , Steinhoff , M & McGrath , J A 2020 , ' Prevalence, pathophysiology and management of itch in epidermolysis bullosa ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.19496. , 2020

Link: https://kclpure.kcl.ac.u..

9

Prevalence, pathophysiology and management of itch in epide..:

Papanikolaou, M ; Onoufriadis, A ; Mellerio, J. E...
Papanikolaou , M , Onoufriadis , A , Mellerio , J E , Nattkemper , L A , Yosipovitch , G , Steinhoff , M & McGrath , J A 2020 , ' Prevalence, pathophysiology and management of itch in epidermolysis bullosa ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.19496. , 2020

Link: https://kclpure.kcl.ac.u..

10

Autosomal recessive hypotrichosis with loose anagen hairs a..:

Onoufriadis, A ; Cabezas, A ; Ng, J. C.F...
Onoufriadis , A , Cabezas , A , Ng , J C F , Canales , J , Costas , M J , Ribeiro , J M , Rodrigues , J R , McAleer , M A , Castelo-Soccio , L , Simpson , M A , Fraternali , F , Irvine , A D , Cameselle , J C & McGrath , J A 2020 , ' Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.19481. , 2020

Link: https://kclpure.kcl.ac.u..

11

Coagulation Factor XIII-A Subunit Missense Mutation in the ..:

Supsrisunjai C ; Hsu C. -K ; Michael M...
info:eu-repo/semantics/altIdentifier/pmid/31493396. , 2020

Link: http://hdl.handle.net/11..

12

Autosomal recessive hypotrichosis with loose anagen hairs a..:

Onoufriadis, A ; Cabezas, A ; Ng, J. C.F...
Onoufriadis , A , Cabezas , A , Ng , J C F , Canales , J , Costas , M J , Ribeiro , J M , Rodrigues , J R , McAleer , M A , Castelo-Soccio , L , Simpson , M A , Fraternali , F , Irvine , A D , Cameselle , J C & McGrath , J A 2020 , ' Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.19481. , 2020

Link: https://kclpure.kcl.ac.u..

13

A decade of next-generation sequencing in genodermatoses:th..:

Chiu, F. P.C ; Doolan, B. J ; McGrath, J. A.
Chiu , F P C , Doolan , B J , McGrath , J A & Onoufriadis , A 2020 , ' A decade of next-generation sequencing in genodermatoses : the impact on gene discovery and clinical diagnostics ' , British Journal of Dermatology . https://doi.org/10.1111/bjd.19384. , 2020

Link: https://kclpure.kcl.ac.u..

14

Coagulation Factor XIII-A Subunit Missense Mutation in the ..:

Supsrisunjai, C ; Hsu, C-K ; Michael, M...
https://eprints.whiterose.ac.uk/151669/1/Supsrisunjai%20et%20al,%202019.pdf. , 2020

Link: https://eprints.whiteros..

15

Low-frequency variation in TP53 has large effects on head c..:

Haworth, S ; Shapland, CY ; Hayward, C...
https://openaccess.sgul.ac.uk/id/eprint/110684/1/s41467-018-07863-x.pdf. , 2019

Link: https://openaccess.sgul...