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Giulia Pascolini

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

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Experimental Dermatology|November 25, 2024
Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair AssociationGiulia Pascolini, Giovanni Luca Scaglione, Feliciana Mariotti, et al.
Archives of Oral Biology|April 24, 2017
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patientsKatia Margiotti, Giulia Pascolini, Federica Consoli, et al.
Psychiatric Genetics|February 7, 2019
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 geneGiulia Pascolini, Silvia Majore, Michele Valiante, et al.
American Journal of Medical Genetics. Part A|December 22, 2015
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetusesMarco Castori, Francesca Servadei, Luigi Laino, et al.
Clinical Genetics|December 29, 2020
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndromeSilvia Majore, Emanuele Agolini, Lucia Micale, et al.
Italian Journal of Dermatology and Venereology|October 3, 2025
Efficacy of JAK inhibitors in treating dominant dystrophic epidermolysis bullosa and alopecia areataFrancesco Moro, Maria B Pupa, Jo L Sinagra, et al.
American Journal of Medical Genetics. Part A|July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2GeneNatasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
Frontiers in Cardiovascular Medicine|August 14, 2023
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patientsAnwar Baban, Marianna Cicenia, Monia Magliozzi, et al.
American Journal of Human Genetics|August 8, 2020
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with PhenotypeMichael S Breen, Paras Garg, Lara Tang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
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Showing results (31-40 of 40) with videos related to

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Pageof 4
You have reached the last page of results.This site can display upto 40 results.
Experimental Dermatology|November 25, 2024
Evidence of a Dose-Dependent Phenotypic Effect of the Desmoplakin (DSP) c.273+5G > A Variant in a Child With Palmoplantar Keratoderma and Woolly Hair AssociationGiulia Pascolini, Giovanni Luca Scaglione, Feliciana Mariotti, et al.
Archives of Oral Biology|April 24, 2017
Lack of pathogenic mutations in SOS1 gene in phenytoin-induced gingival overgrowth patientsKatia Margiotti, Giulia Pascolini, Federica Consoli, et al.
Psychiatric Genetics|February 7, 2019
Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 geneGiulia Pascolini, Silvia Majore, Michele Valiante, et al.
American Journal of Medical Genetics. Part A|December 22, 2015
Axial skeletogenesis in human autosomal aneuploidies: A radiographic study of 145 second trimester fetusesMarco Castori, Francesca Servadei, Luigi Laino, et al.
Clinical Genetics|December 29, 2020
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndromeSilvia Majore, Emanuele Agolini, Lucia Micale, et al.
Italian Journal of Dermatology and Venereology|October 3, 2025
Efficacy of JAK inhibitors in treating dominant dystrophic epidermolysis bullosa and alopecia areataFrancesco Moro, Maria B Pupa, Jo L Sinagra, et al.
American Journal of Medical Genetics. Part A|July 4, 2025
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2GeneNatasha L Rudy, Adriana Gomes, Tinatin Tkemaladze, et al.
Frontiers in Cardiovascular Medicine|August 14, 2023
Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patientsAnwar Baban, Marianna Cicenia, Monia Magliozzi, et al.
American Journal of Human Genetics|August 8, 2020
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with PhenotypeMichael S Breen, Paras Garg, Lara Tang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
Pageof 4