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Franco Laccone

Showing results (31-40 of 99) with videos related to

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Molecular Pharmaceutics|February 19, 2026
Cell-Penetrating Peptides and Supercharged Proteins: A Comprehensive Protocol from Isolation to Cellular UptakeAlexander V Beribisky, Victoria Sarne, Anna Huber, et al.
Neurogenetics|December 17, 2002
De novo MECP2 mutation in a 46,XX male patient with Rett syndromeRobert Maiwald, Anselm Bönte, Helena Jung, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndromeHannes Steinkellner, Julia Etzler, Laura Gogoll, et al.
Experimental Dermatology|March 16, 2013
A new COL3A1 mutation in Ehlers-Danlos syndrome type IVJohanna Eder, Franco Laccone, Marianne Rohrbach, et al.
Human Mutation|February 20, 2004
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeFranco Laccone, Ivonne Jünemann, Sharon Whatley, et al.
Hormone Research in Paediatrics|November 1, 2016
A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-UpDiana-Alexandra Ertl, Adalbert Raimann, Dagmar Csaicsich, et al.
The Protein Journal|May 13, 2022
Expression, Purification, Characterization and Cellular Uptake of MeCP2 VariantsAlexander V Beribisky, Hannes Steinkellner, Sofia Geislberger, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 geneFranco Laccone, Katharina Schoner, Birgit Krabichler, et al.
Pediatric Blood & Cancer|December 20, 2018
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutationBernhard Csillag, Denisa Ilencikova, Manfred Meissl, et al.
Protein Science : a Publication of the Protein Society|September 14, 2024
MeCP2 is a naturally supercharged protein with cell membrane transduction capabilitiesAlexander V Beribisky, Anna Huber, Victoria Sarne, et al.
Pageof 10

Showing results (31-40 of 99) with videos related to

Sort By:
Pageof 10
Molecular Pharmaceutics|February 19, 2026
Cell-Penetrating Peptides and Supercharged Proteins: A Comprehensive Protocol from Isolation to Cellular UptakeAlexander V Beribisky, Victoria Sarne, Anna Huber, et al.
Neurogenetics|December 17, 2002
De novo MECP2 mutation in a 46,XX male patient with Rett syndromeRobert Maiwald, Anselm Bönte, Helena Jung, et al.
European Journal of Human Genetics : EJHG|December 4, 2014
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndromeHannes Steinkellner, Julia Etzler, Laura Gogoll, et al.
Experimental Dermatology|March 16, 2013
A new COL3A1 mutation in Ehlers-Danlos syndrome type IVJohanna Eder, Franco Laccone, Marianne Rohrbach, et al.
Human Mutation|February 20, 2004
Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndromeFranco Laccone, Ivonne Jünemann, Sharon Whatley, et al.
Hormone Research in Paediatrics|November 1, 2016
A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-UpDiana-Alexandra Ertl, Adalbert Raimann, Dagmar Csaicsich, et al.
The Protein Journal|May 13, 2022
Expression, Purification, Characterization and Cellular Uptake of MeCP2 VariantsAlexander V Beribisky, Hannes Steinkellner, Sofia Geislberger, et al.
European Journal of Human Genetics : EJHG|June 10, 2011
Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 geneFranco Laccone, Katharina Schoner, Birgit Krabichler, et al.
Pediatric Blood & Cancer|December 20, 2018
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutationBernhard Csillag, Denisa Ilencikova, Manfred Meissl, et al.
Protein Science : a Publication of the Protein Society|September 14, 2024
MeCP2 is a naturally supercharged protein with cell membrane transduction capabilitiesAlexander V Beribisky, Anna Huber, Victoria Sarne, et al.
Pageof 10