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R C Betz

Showing results (11-20 of 38) with videos related to

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Clinical and Experimental Dermatology|March 27, 2015
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicismS Redler, S M Pasternack, S Wolf, et al.
The British Journal of Dermatology|June 18, 2019
Mast cell activation in Dowling-Degos diseaseJ Knuever, O D Persa, A Illerhaus, et al.
American Journal of Human Genetics|June 19, 2001
Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopeciaA M Hillmer, R Kruse, R C Betz, et al.
The British Journal of Dermatology|October 24, 2008
Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type IIS M Pasternack, R C Betz, F Brandrup, et al.
The British Journal of Dermatology|April 23, 2002
The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approachA M Hillmer, R Kruse, F Macciardi, et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete|October 6, 2011
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]S Hanneken, A Rütten, S Eigelshoven, et al.
Klinische Padiatrie|August 24, 2012
A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRLS M Pasternack, D Böckenhauer, M Refke, et al.
American Journal of Human Genetics|July 6, 2000
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36K Bosse, R C Betz, Y A Lee, et al.
The British Journal of Dermatology|January 4, 2012
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasiaG Naz, S M Pasternack, C Perrin, et al.
The British Journal of Dermatology|April 14, 2020
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndromeD J Ralser, S Kumar, O Borisov, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Clinical and Experimental Dermatology|March 27, 2015
A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicismS Redler, S M Pasternack, S Wolf, et al.
The British Journal of Dermatology|June 18, 2019
Mast cell activation in Dowling-Degos diseaseJ Knuever, O D Persa, A Illerhaus, et al.
American Journal of Human Genetics|June 19, 2001
Variant 1859G-->A (Arg620Gln) of the "hairless" gene: absence of association with papular atrichia or androgenic alopeciaA M Hillmer, R Kruse, R C Betz, et al.
The British Journal of Dermatology|October 24, 2008
Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type IIS M Pasternack, R C Betz, F Brandrup, et al.
The British Journal of Dermatology|April 23, 2002
The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approachA M Hillmer, R Kruse, F Macciardi, et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete|October 6, 2011
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients]S Hanneken, A Rütten, S Eigelshoven, et al.
Klinische Padiatrie|August 24, 2012
A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRLS M Pasternack, D Böckenhauer, M Refke, et al.
American Journal of Human Genetics|July 6, 2000
Localization of a gene for syndactyly type 1 to chromosome 2q34-q36K Bosse, R C Betz, Y A Lee, et al.
The British Journal of Dermatology|January 4, 2012
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasiaG Naz, S M Pasternack, C Perrin, et al.
The British Journal of Dermatology|April 14, 2020
Identification of a founder mutation in KRT14 associated with Naegeli-Franceschetti-Jadassohn syndromeD J Ralser, S Kumar, O Borisov, et al.
Pageof 4