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Franco Laccone

Showing results (61-70 of 99) with videos related to

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Frontiers in Genetics|July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic toolKatarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
American Journal of Medical Genetics. Part A|May 26, 2018
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibitHelga Rehder, Franco Laccone, Susanne G Kircher, et al.
Genes|January 8, 2025
RNA Sequencing and Weighted Gene Co-Expression Network Analysis Highlight DNA Replication and Key Genes in Nucleolin-Depleted Hepatoblastoma CellsHannes Steinkellner, Silvia Madritsch, Mara Kluge, et al.
Plos One|April 28, 2015
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican RepublicJasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, et al.
Plos One|May 30, 2015
Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridizationMichael Feichtinger, Tina Stopp, Christian Göbl, et al.
Retina (Philadelphia, Pa.)|September 6, 2021
THE SPECTRUM OF INTERNAL LIMITING MEMBRANE DISEASE IN ALPORT SYNDROME: A Multimodal Imaging StudyMaria Vittoria Cicinelli, Markus Ritter, Cybele Ghossein, et al.
Plos One|July 16, 2015
Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic HybridizationMichael Feichtinger, Tina Stopp, Christian Göbl, et al.
Neurobiology of Disease|August 25, 2009
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeatsJana Boy, Thorsten Schmidt, Ulrike Schumann, et al.
Calcified Tissue International|May 18, 2021
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus SyndromeAli Al Kaissi, Barbara M Misof, Franco Laccone, et al.
European Journal of Human Genetics : EJHG|January 2, 2022
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlationsMateja Smogavec, Maria Gerykova Bujalkova, Reinhard Lehner, et al.
Pageof 10

Showing results (61-70 of 99) with videos related to

Sort By:
Pageof 10
Frontiers in Genetics|July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic toolKatarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
American Journal of Medical Genetics. Part A|May 26, 2018
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibitHelga Rehder, Franco Laccone, Susanne G Kircher, et al.
Genes|January 8, 2025
RNA Sequencing and Weighted Gene Co-Expression Network Analysis Highlight DNA Replication and Key Genes in Nucleolin-Depleted Hepatoblastoma CellsHannes Steinkellner, Silvia Madritsch, Mara Kluge, et al.
Plos One|April 28, 2015
Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican RepublicJasmin Schiessl-Weyer, Pedro Roa, Franco Laccone, et al.
Plos One|May 30, 2015
Increasing live birth rate by preimplantation genetic screening of pooled polar bodies using array comparative genomic hybridizationMichael Feichtinger, Tina Stopp, Christian Göbl, et al.
Retina (Philadelphia, Pa.)|September 6, 2021
THE SPECTRUM OF INTERNAL LIMITING MEMBRANE DISEASE IN ALPORT SYNDROME: A Multimodal Imaging StudyMaria Vittoria Cicinelli, Markus Ritter, Cybele Ghossein, et al.
Plos One|July 16, 2015
Correction: Increasing Live Birth Rate by Preimplantation Genetic Screening of Pooled Polar Bodies Using Array Comparative Genomic HybridizationMichael Feichtinger, Tina Stopp, Christian Göbl, et al.
Neurobiology of Disease|August 25, 2009
A transgenic mouse model of spinocerebellar ataxia type 3 resembling late disease onset and gender-specific instability of CAG repeatsJana Boy, Thorsten Schmidt, Ulrike Schumann, et al.
Calcified Tissue International|May 18, 2021
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus SyndromeAli Al Kaissi, Barbara M Misof, Franco Laccone, et al.
European Journal of Human Genetics : EJHG|January 2, 2022
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlationsMateja Smogavec, Maria Gerykova Bujalkova, Reinhard Lehner, et al.
Pageof 10