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Fabio Sirchia

Showing results (1-10 of 64) with videos related to

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The Journal of Pediatrics|July 21, 2018
A Girl with Delayed Puberty and Bumpy LipsStefanny Andrade, Fabio Sirchia, Elena Faleschini, et al.
Italian Journal of Pediatrics|May 13, 2022
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literatureLuisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|January 23, 2024
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patientAlessandro Vanoli, Marco Vincenzo Lenti, Fabio Sirchia, et al.
American Journal of Medical Genetics. Part A|October 20, 2022
Mosaic Williams syndrome: A case reportSilvia Kalantari, Marta Di Biagio, Enza Maria Valente, et al.
Journal of Assisted Reproduction and Genetics|March 30, 2022
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiencyFabio Sirchia, Elisa Giorgio, Laura Cucinella, et al.
The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine|October 18, 2018
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case ReportPrisca Da Lozzo, Andrea Magnolato, Irene Del Rizzo, et al.
Italian Journal of Pediatrics|March 22, 2021
Definition and prevalence of familial short statureVeronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, et al.
American Journal of Medical Genetics. Part A|July 7, 2020
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic painLuisa Cortellazzo Wiel, Laura De Nardi, Andrea Magnolato, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypesElisa Giorgio, Fabio Sirchia, Martino Bosco, et al.
Immunology Letters|April 17, 2020
Corrigendum to "Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency" [Immunol. Lett. 214 (2019) 52-54]Erica Valencic, Elisa Piscianz, Fabio Sirchia, et al.
Pageof 7

Showing results (1-10 of 64) with videos related to

Sort By:
Pageof 7
The Journal of Pediatrics|July 21, 2018
A Girl with Delayed Puberty and Bumpy LipsStefanny Andrade, Fabio Sirchia, Elena Faleschini, et al.
Italian Journal of Pediatrics|May 13, 2022
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literatureLuisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|January 23, 2024
Mismatch repair deficiency in multifocal gastric epithelial neoplasia and non-dysplastic glands: Harbinger of Lynch syndrome in an autoimmune gastritis patientAlessandro Vanoli, Marco Vincenzo Lenti, Fabio Sirchia, et al.
American Journal of Medical Genetics. Part A|October 20, 2022
Mosaic Williams syndrome: A case reportSilvia Kalantari, Marta Di Biagio, Enza Maria Valente, et al.
Journal of Assisted Reproduction and Genetics|March 30, 2022
Biallelic mutations in PSMC3IP are associated with secondary amenorrhea: expanding the spectrum of premature ovarian insufficiencyFabio Sirchia, Elisa Giorgio, Laura Cucinella, et al.
The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine|October 18, 2018
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case ReportPrisca Da Lozzo, Andrea Magnolato, Irene Del Rizzo, et al.
Italian Journal of Pediatrics|March 22, 2021
Definition and prevalence of familial short statureVeronica Grigoletto, Alessandro Agostino Occhipinti, Maria Chiara Pellegrin, et al.
American Journal of Medical Genetics. Part A|July 7, 2020
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic painLuisa Cortellazzo Wiel, Laura De Nardi, Andrea Magnolato, et al.
American Journal of Medical Genetics. Part A|December 19, 2018
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypesElisa Giorgio, Fabio Sirchia, Martino Bosco, et al.
Immunology Letters|April 17, 2020
Corrigendum to "Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency" [Immunol. Lett. 214 (2019) 52-54]Erica Valencic, Elisa Piscianz, Fabio Sirchia, et al.
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