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Giulia Pascolini

Showing results (11-20 of 40) with videos related to

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American Journal of Medical Genetics. Part A|January 11, 2024
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case seriesGiulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, et al.
Acta Dermato-Venereologica|October 10, 2024
Clinical Improvement of Bullous Pemphigoid with Hyperkeratosis and Palmoplantar Keratoderma in Two Patients Treated with DupilumabGiulia Pascolini, Feliciana Mariotti, Anna Pira, et al.
The Journal of Dermatology|December 22, 2023
Ectoderm-derived findings in Aymè-Gripp syndromeGiulia Pascolini, Giovanni Di Zenzo, Paolo Morani, et al.
European Journal of Medical Genetics|September 3, 2013
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature reviewMarco Castori, Michele Valiante, Giulia Pascolini, et al.
American Journal of Medical Genetics. Part A|December 14, 2020
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestryGiulia Pascolini, Federica Gaudioso, Maria Teresa Fadda, et al.
Molecular Genetics & Genomic Medicine|August 9, 2024
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric populationGiulia Pascolini, Martina Lipari, Federica Gaudioso, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
Dermatology Reports|February 6, 2026
Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in <i>SUFU</i>Giulia Pascolini, Giovanna Floriddia, Luca Fania, et al.
European Journal of Medical Genetics|June 24, 2020
Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion"Giulia Pascolini, Michele Valiante, Irene Bottillo, et al.
European Journal of Medical Genetics|August 18, 2019
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletionGiulia Pascolini, Michele Valiante, Irene Bottillo, et al.
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American Journal of Medical Genetics. Part A|January 11, 2024
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case seriesGiulia Pascolini, Giovanni Di Zenzo, Annarita Panebianco, et al.
Acta Dermato-Venereologica|October 10, 2024
Clinical Improvement of Bullous Pemphigoid with Hyperkeratosis and Palmoplantar Keratoderma in Two Patients Treated with DupilumabGiulia Pascolini, Feliciana Mariotti, Anna Pira, et al.
The Journal of Dermatology|December 22, 2023
Ectoderm-derived findings in Aymè-Gripp syndromeGiulia Pascolini, Giovanni Di Zenzo, Paolo Morani, et al.
European Journal of Medical Genetics|September 3, 2013
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature reviewMarco Castori, Michele Valiante, Giulia Pascolini, et al.
American Journal of Medical Genetics. Part A|December 14, 2020
Koolen-de Vries syndrome in the first adulthood patient of Southern India ancestryGiulia Pascolini, Federica Gaudioso, Maria Teresa Fadda, et al.
Molecular Genetics & Genomic Medicine|August 9, 2024
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric populationGiulia Pascolini, Martina Lipari, Federica Gaudioso, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|February 25, 2018
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvementGiulia Pascolini, Emanuele Agolini, Silvia Majore, et al.
Dermatology Reports|February 6, 2026
Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in <i>SUFU</i>Giulia Pascolini, Giovanna Floriddia, Luca Fania, et al.
European Journal of Medical Genetics|June 24, 2020
Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion"Giulia Pascolini, Michele Valiante, Irene Bottillo, et al.
European Journal of Medical Genetics|August 18, 2019
Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletionGiulia Pascolini, Michele Valiante, Irene Bottillo, et al.
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