Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Judith Fischer

Showing results (101-110 of 174) with videos related to

Pageof 18
Sort By:
Human Mutation|July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosisAlrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.
The Journal of Investigative Dermatology|May 15, 2009
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian familyMonia Kharfi, Nadia El Fekih, Donia Ammar, et al.
Genes|March 28, 2024
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> MutationsAlrun Hotz, Regina Fölster-Holst, Vinzenz Oji, et al.
The British Journal of Dermatology|June 11, 2026
Psoriasis flare-ups in non syndromic autosomal recessive epidermal differentiation disordersFlorence Assan, Snaigune Miskinyte, Sandy Sylvain, et al.
Acta Dermato-Venereologica|November 22, 2018
Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin SyndromeLuana Niculescu, Cristel Ruini, Jerome Srour, et al.
The British Journal of Dermatology|February 10, 2023
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblingsMingfeng Li, Kenneth Lay, Andreas Zimmer, et al.
American Journal of Medical Genetics. Part A|July 19, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular eventLouiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, et al.
The Journal of Investigative Dermatology|June 26, 2009
An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disordersTiphaine Oudot, Fabienne Lesueur, Mickaël Guedj, et al.
Experimental Dermatology|June 15, 2026
Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation DisordersHao-Hsiang Hsu-Rehder, Cristina Glocker, Christine Aldrian, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|May 14, 2024
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohortLeonie Frommherz, Kathrin Giehl, Josephine Hofmann, et al.
Pageof 18

Showing results (101-110 of 174) with videos related to

Sort By:
Pageof 18
Human Mutation|July 17, 2018
Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosisAlrun Hotz, Emmanuelle Bourrat, Julia Küsel, et al.
The Journal of Investigative Dermatology|May 15, 2009
A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian familyMonia Kharfi, Nadia El Fekih, Donia Ammar, et al.
Genes|March 28, 2024
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> MutationsAlrun Hotz, Regina Fölster-Holst, Vinzenz Oji, et al.
The British Journal of Dermatology|June 11, 2026
Psoriasis flare-ups in non syndromic autosomal recessive epidermal differentiation disordersFlorence Assan, Snaigune Miskinyte, Sandy Sylvain, et al.
Acta Dermato-Venereologica|November 22, 2018
Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin SyndromeLuana Niculescu, Cristel Ruini, Jerome Srour, et al.
The British Journal of Dermatology|February 10, 2023
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblingsMingfeng Li, Kenneth Lay, Andreas Zimmer, et al.
American Journal of Medical Genetics. Part A|July 19, 2023
Novel homozygous LAMB1 in-frame deletion in a pediatric patient with brain anomalies and cerebrovascular eventLouiza Toutouna, Stefanie Beck-Woedl, Ursula Feige, et al.
The Journal of Investigative Dermatology|June 26, 2009
An association study of 22 candidate genes in psoriasis families reveals shared genetic factors with other autoimmune and skin disordersTiphaine Oudot, Fabienne Lesueur, Mickaël Guedj, et al.
Experimental Dermatology|June 15, 2026
Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation DisordersHao-Hsiang Hsu-Rehder, Cristina Glocker, Christine Aldrian, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV|May 14, 2024
Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohortLeonie Frommherz, Kathrin Giehl, Josephine Hofmann, et al.
Pageof 18