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Lisa Weibel

Showing results (71-80 of 89) with videos related to

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European Journal of Pediatrics|June 18, 2021
Sleep behavior of infants with infantile hemangioma treated with propranolol-a cohort studyMartin Theiler, Nicole Knöpfel, Susanne von der Heydt, et al.
Dermatology (Basel, Switzerland)|November 4, 2024
Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus StudyAnouk E M Nouwen, Aviël Ragamin, Maria J Knol, et al.
The Journal of Investigative Dermatology|November 18, 2011
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutationsMatthieu Lacroix, Laetitia Lacaze-Buzy, Laetitia Furio, et al.
American Journal of Human Genetics|November 28, 2016
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityYinghong He, Kristin Maier, Juna Leppert, et al.
The British Journal of Dermatology|June 16, 2026
In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton SyndromeEdwin Cuperus, Suzanne G M A Pasmans, Henry L Han, et al.
Journal of the American Academy of Dermatology|December 6, 2020
Molecular characterization and natural history of linear porokeratosis: A case seriesMina Saleva-Stateva, Maria Hess, Kristin Technau-Hafsi, et al.
The New England Journal of Medicine|April 20, 2012
Integrin α3 mutations with kidney, lung, and skin diseaseCristina Has, Giuseppina Spartà, Dimitra Kiritsi, et al.
Pediatric Dermatology|August 20, 2024
Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literatureMarta Ivars, Ilona J Frieden, Lauren Provini, et al.
Genes|March 29, 2023
Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital IchthyosisAlrun Hotz, Julia Kopp, Emmanuelle Bourrat, et al.
The Journal of Investigative Dermatology|August 19, 2018
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated CardiomyopathyAgnes Schwieger-Briel, Ignacia Fuentes, Daniele Castiglia, et al.
Pageof 9

Showing results (71-80 of 89) with videos related to

Sort By:
Pageof 9
European Journal of Pediatrics|June 18, 2021
Sleep behavior of infants with infantile hemangioma treated with propranolol-a cohort studyMartin Theiler, Nicole Knöpfel, Susanne von der Heydt, et al.
Dermatology (Basel, Switzerland)|November 4, 2024
Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus StudyAnouk E M Nouwen, Aviël Ragamin, Maria J Knol, et al.
The Journal of Investigative Dermatology|November 18, 2011
Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutationsMatthieu Lacroix, Laetitia Lacaze-Buzy, Laetitia Furio, et al.
American Journal of Human Genetics|November 28, 2016
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin FragilityYinghong He, Kristin Maier, Juna Leppert, et al.
The British Journal of Dermatology|June 16, 2026
In-depth Human Phenotype Ontology Curation Boosts Prioritization Performance for Netherton SyndromeEdwin Cuperus, Suzanne G M A Pasmans, Henry L Han, et al.
Journal of the American Academy of Dermatology|December 6, 2020
Molecular characterization and natural history of linear porokeratosis: A case seriesMina Saleva-Stateva, Maria Hess, Kristin Technau-Hafsi, et al.
The New England Journal of Medicine|April 20, 2012
Integrin α3 mutations with kidney, lung, and skin diseaseCristina Has, Giuseppina Spartà, Dimitra Kiritsi, et al.
Pediatric Dermatology|August 20, 2024
Segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS): Case series and review of literatureMarta Ivars, Ilona J Frieden, Lauren Provini, et al.
Genes|March 29, 2023
Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital IchthyosisAlrun Hotz, Julia Kopp, Emmanuelle Bourrat, et al.
The Journal of Investigative Dermatology|August 19, 2018
Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated CardiomyopathyAgnes Schwieger-Briel, Ignacia Fuentes, Daniele Castiglia, et al.
Pageof 9