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Henrike Lisa Sczakiel

Showing results (1-10 of 7) with videos related to

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American Journal of Medical Genetics. Part A|March 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variantSarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, et al.
Clinical Genetics|September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal thirdHenrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
Journal of Medical Genetics|June 26, 2026
Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disabilityErik Hertstein, Miriam Bertrand, Johannes Kopp, et al.
Nucleic Acids Research|May 20, 2024
REEV: review, evaluate and explain variantsDzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, et al.
Rheumatology (Oxford, England)|October 4, 2022
Novel mutation and expanding phenotype in IRF2BP2 deficiencyJulia Körholz, Anastasia Gabrielyan, Henrike Lisa Sczakiel, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
American Journal of Medical Genetics. Part A|March 22, 2024
RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variantSarina Schwartzmann, Max Zhao, Henrike Lisa Sczakiel, et al.
Clinical Genetics|September 5, 2021
GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal thirdHenrike Lisa Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe, et al.
Journal of Medical Genetics|June 26, 2026
Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disabilityErik Hertstein, Miriam Bertrand, Johannes Kopp, et al.
Nucleic Acids Research|May 20, 2024
REEV: review, evaluate and explain variantsDzmitry Hramyka, Henrike Lisa Sczakiel, Max Xiaohang Zhao, et al.
Rheumatology (Oxford, England)|October 4, 2022
Novel mutation and expanding phenotype in IRF2BP2 deficiencyJulia Körholz, Anastasia Gabrielyan, Henrike Lisa Sczakiel, et al.
Nature Genetics|June 24, 2025
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Pageof 1