Sabrina C. Thiele
831  Ergebnisse:
Personensuche X
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4

Identification of a novel mutation in RIPK4 in a kindred wi..:

Gollasch, Benjamin ; Basmanav, Fitnat Buket ; Nanda, Arti...
American Journal of Medical Genetics Part A.  167 (2015)  11 - p. 2555-2562 , 2015
 
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8

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, ..:

Romano, Maria-Teresa ; Tafazzoli, Aylar ; Mattern, Maximilian...
Romano , M-T , Tafazzoli , A , Mattern , M , Sivalingam , S , Wolf , S , Rupp , A , Thiele , H , Altmüller , J , Nürnberg , P , Ellwanger , J , Gambon , R , Baumer , A , Kohlschmidt , N , Metze , D , Holdenrieder , S , Paus , R , Lütjohann , D , Frank , J , Geyer , M , Bertolini , M , Kokordelis , P & Betz , R C 2018 , ' Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex ' , American Journal of Human Genetics , vol. 103 , no. 5 , pp. 777-785 . https://doi.org/10.1016/j.ajhg.2018.09.011.  , 2018
 
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12

Mutations in Three Genes Encoding Proteins Involved in Hair..:

Ü Basmanav, F Buket ; Cau, Laura ; Tafazzoli, Aylar...
Ü Basmanav , F B , Cau , L , Tafazzoli , A , Méchin , M-C , Wolf , S , Romano , M T , Valentin , F , Wiegmann , H , Huchenq , A , Kandil , R , Garcia Bartels , N , Kilic , A , George , S , Ralser , D J , Bergner , S , Ferguson , D J P , Oprisoreanu , A-M , Wehner , M , Thiele , H , Altmüller , J , Nürnberg , P , Swan , D , Houniet , D , Büchner , A , Weibel , L , Wagner , N , Grimalt , R , Bygum , A , Serre , G , Blume-Peytavi , U , Sprecher , E , Schoch , S , Oji , V , Hamm , H , Farrant , P , Simon , M & Betz , R C 2016 , ' Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome ' , American Journal of Human Genetics , vol. 99 , no. 6 , pp. 1292–1304 . https://doi.org/10.1016/j.ajhg.2016.10.004.  , 2016
 
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