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Franco Laccone

Showing results (71-80 of 99) with videos related to

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Scientific Reports|May 30, 2019
An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variantsHannes Steinkellner, Anna Schönegger, Julia Etzler, et al.
Human Genomics|February 7, 2026
DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD)Tamara Löwenstern, Silvia Madritsch, David Horner, et al.
Journal of Medical Genetics|December 9, 2024
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnosticsPaul Dremsek, Anna Schachner, Theresa Reischer, et al.
BMC Rheumatology|July 12, 2022
COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case reportKarolina Anderle, Klaus Machold, Hans P Kiener, et al.
European Journal of Human Genetics : EJHG|May 5, 2005
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndromeIsabella Borg, Kristine Freude, Sabine Kübart, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 13, 2007
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidenceUlrike Bichelmeier, Thorsten Schmidt, Jeannette Hübener, et al.
Pediatric Neurology|August 24, 2024
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable PhenotypesSandy Siegert, Anna Grisold, Katharina Pal-Handl, et al.
International Archives of Allergy and Immunology|June 6, 2023
Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic AnalysesBernhard Kratzer, Katharina Grabmeier-Pfistershammer, Doris Trapin, et al.
Human Mutation|December 24, 2002
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10Barbara Zoll, Lars Petersen, Katrin Lange, et al.
Birth Defects Research|December 17, 2019
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation patternKatharina Schoner, Martina Witsch-Baumgartner, Jana Behunova, et al.
Pageof 10

Showing results (71-80 of 99) with videos related to

Sort By:
Pageof 10
Scientific Reports|May 30, 2019
An electrochemiluminescence based assay for quantitative detection of endogenous and exogenously applied MeCP2 protein variantsHannes Steinkellner, Anna Schönegger, Julia Etzler, et al.
Human Genomics|February 7, 2026
DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD)Tamara Löwenstern, Silvia Madritsch, David Horner, et al.
Journal of Medical Genetics|December 9, 2024
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnosticsPaul Dremsek, Anna Schachner, Theresa Reischer, et al.
BMC Rheumatology|July 12, 2022
COVID-19 as a putative trigger of anti-MDA5-associated dermatomyositis with acute respiratory distress syndrome (ARDS) requiring lung transplantation, a case reportKarolina Anderle, Klaus Machold, Hans P Kiener, et al.
European Journal of Human Genetics : EJHG|May 5, 2005
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndromeIsabella Borg, Kristine Freude, Sabine Kübart, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|July 13, 2007
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidenceUlrike Bichelmeier, Thorsten Schmidt, Jeannette Hübener, et al.
Pediatric Neurology|August 24, 2024
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable PhenotypesSandy Siegert, Anna Grisold, Katharina Pal-Handl, et al.
International Archives of Allergy and Immunology|June 6, 2023
Mycobacterium avium Complex Infections: Detailed Phenotypic and Functional Immunological Work-Up Is Required despite Genetic AnalysesBernhard Kratzer, Katharina Grabmeier-Pfistershammer, Doris Trapin, et al.
Human Mutation|December 24, 2002
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10Barbara Zoll, Lars Petersen, Katrin Lange, et al.
Birth Defects Research|December 17, 2019
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation patternKatharina Schoner, Martina Witsch-Baumgartner, Jana Behunova, et al.
Pageof 10