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Franco Laccone

Showing results (41-50 of 99) with videos related to

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Molecular Syndromology|February 26, 2019
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of <i>PIEZO2</i> Mutations and Review of the LiteratureJana Behunova, Maria Gerykova Bujalkova, Gabriel Gras, et al.
Journal of Visualized Experiments : Jove|June 9, 2020
An Electrochemiluminescence-Based Assay for MeCP2 Protein VariantsHannes Steinkellner, Alexander V Beribisky, Philip Mausberg, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|February 24, 2024
Mutational spectrum in patients with dominant non-syndromic hearing loss in AustriaAlexandra Frohne, Sybille Vrabel, Franco Laccone, et al.
Scientific Reports|December 4, 2025
Analysis of clinically relevant large tandem repeats using nanopore sequencingSilvia Madritsch, David Horner, Tamara Löwenstern, et al.
Clinical and Experimental Otorhinolaryngology|June 22, 2019
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient CohortMartin Koenighofer, Thomas Parzefall, Alexandra Frohne, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|April 14, 2021
Incomplete penetrance of a novel SDHD variation causing familial head and neck paragangliomaMartin Koenighofer, Thomas Parzefall, Alexandra Frohne, et al.
Human Molecular Genetics|October 24, 2002
Okihiro syndrome is caused by SALL4 mutationsJürgen Kohlhase, Marielle Heinrich, Lucia Schubert, et al.
Orphanet Journal of Rare Diseases|November 5, 2016
Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective studySharon Samueli, Klaus Abraham, Anastasia Dressler, et al.
Genes|April 28, 2023
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous <i>SHOX</i> Splice-Site VariantJulia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, et al.
Life (Basel, Switzerland)|August 26, 2022
Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart DiseaseStephanie Springer, Eva Karner, Christof Worda, et al.
Pageof 10

Showing results (41-50 of 99) with videos related to

Sort By:
Pageof 10
Molecular Syndromology|February 26, 2019
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of <i>PIEZO2</i> Mutations and Review of the LiteratureJana Behunova, Maria Gerykova Bujalkova, Gabriel Gras, et al.
Journal of Visualized Experiments : Jove|June 9, 2020
An Electrochemiluminescence-Based Assay for MeCP2 Protein VariantsHannes Steinkellner, Alexander V Beribisky, Philip Mausberg, et al.
European Archives of Oto-Rhino-Laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery|February 24, 2024
Mutational spectrum in patients with dominant non-syndromic hearing loss in AustriaAlexandra Frohne, Sybille Vrabel, Franco Laccone, et al.
Scientific Reports|December 4, 2025
Analysis of clinically relevant large tandem repeats using nanopore sequencingSilvia Madritsch, David Horner, Tamara Löwenstern, et al.
Clinical and Experimental Otorhinolaryngology|June 22, 2019
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient CohortMartin Koenighofer, Thomas Parzefall, Alexandra Frohne, et al.
Clinical Otolaryngology : Official Journal of ENT-UK ; Official Journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery|April 14, 2021
Incomplete penetrance of a novel SDHD variation causing familial head and neck paragangliomaMartin Koenighofer, Thomas Parzefall, Alexandra Frohne, et al.
Human Molecular Genetics|October 24, 2002
Okihiro syndrome is caused by SALL4 mutationsJürgen Kohlhase, Marielle Heinrich, Lucia Schubert, et al.
Orphanet Journal of Rare Diseases|November 5, 2016
Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective studySharon Samueli, Klaus Abraham, Anastasia Dressler, et al.
Genes|April 28, 2023
Leri-Weill Dyschondrosteosis Caused by a Leaky Homozygous <i>SHOX</i> Splice-Site VariantJulia Vodopiutz, Lisa-Maria Steurer, Florentina Haufler, et al.
Life (Basel, Switzerland)|August 26, 2022
Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart DiseaseStephanie Springer, Eva Karner, Christof Worda, et al.
Pageof 10