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Judith Fischer

Showing results (121-130 of 174) with videos related to

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Matrix Biology : Journal of the International Society for Matrix Biology|July 15, 2019
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"Hassan Vahidnezhad, Leila Youssefian, Maryam Daneshpazhooh, et al.
European Journal of Radiology|June 17, 2014
MRI evidence for preserved regulation of intracranial pressure in patients with cerebral arteriovenous malformationsFelix G Meinel, Judith Fischer, Andreas Pomschar, et al.
The Journal of Investigative Dermatology|May 15, 2019
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst FormationSteffen Hörer, Slaheddine Marrakchi, Franz P W Radner, et al.
The Journal of Investigative Dermatology|October 19, 2016
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-AcylceramidesSusanne Grond, Thomas O Eichmann, Sandrine Dubrac, et al.
Plos Genetics|October 24, 2006
Heritability and tissue specificity of expression quantitative trait lociEnrico Petretto, Jonathan Mangion, Nicholas J Dickens, et al.
The Journal of Biological Chemistry|May 1, 2008
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet bindingMartina Schweiger, Gabriele Schoiswohl, Achim Lass, et al.
Human Molecular Genetics|August 14, 2003
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2Caroline Lefévre, Stéphanie Audebert, Florence Jobard, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.
Plos Genetics|June 12, 2013
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humansFranz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, et al.
Molecular and Cellular Pediatrics|April 13, 2026
Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndromeLina Raljević, Katalin Komlosi, Ursula Feige, et al.
Pageof 18

Showing results (121-130 of 174) with videos related to

Sort By:
Pageof 18
Matrix Biology : Journal of the International Society for Matrix Biology|July 15, 2019
Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out"Hassan Vahidnezhad, Leila Youssefian, Maryam Daneshpazhooh, et al.
European Journal of Radiology|June 17, 2014
MRI evidence for preserved regulation of intracranial pressure in patients with cerebral arteriovenous malformationsFelix G Meinel, Judith Fischer, Andreas Pomschar, et al.
The Journal of Investigative Dermatology|May 15, 2019
A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst FormationSteffen Hörer, Slaheddine Marrakchi, Franz P W Radner, et al.
The Journal of Investigative Dermatology|October 19, 2016
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-AcylceramidesSusanne Grond, Thomas O Eichmann, Sandrine Dubrac, et al.
Plos Genetics|October 24, 2006
Heritability and tissue specificity of expression quantitative trait lociEnrico Petretto, Jonathan Mangion, Nicholas J Dickens, et al.
The Journal of Biological Chemistry|May 1, 2008
The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet bindingMartina Schweiger, Gabriele Schoiswohl, Achim Lass, et al.
Human Molecular Genetics|August 14, 2003
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2Caroline Lefévre, Stéphanie Audebert, Florence Jobard, et al.
European Journal of Human Genetics : EJHG|December 13, 2012
Symptomatic lipid storage in carriers for the PNPLA2 geneMirian C H Janssen, Baziel van Engelen, Livia Kapusta, et al.
Plos Genetics|June 12, 2013
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humansFranz P W Radner, Slaheddine Marrakchi, Peter Kirchmeier, et al.
Molecular and Cellular Pediatrics|April 13, 2026
Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndromeLina Raljević, Katalin Komlosi, Ursula Feige, et al.
Pageof 18