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Simonetta Rosato

Showing results (11-20 of 29) with videos related to

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American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutationGiancarlo Gargano, Isotta Guidotti, Eleonora Balestri, et al.
Experimental and Therapeutic Medicine|January 8, 2025
Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosisBeatrice Melli, Vincenza Ylenia Cusenza, Sandra Martinelli, et al.
Oncology Reports|February 22, 2008
Disease family history and modification of breast cancer risk in common BRCA2 variantsIan Jonathan Seymour, Silvia Casadei, Valentina Zampiga, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Cytogenetic and Genome Research|December 10, 2015
Cryptic 13q34 and 4q35.2 Deletions in an Italian FamilyFederica Riccardi, Gianna F Rivolta, Vera Uliana, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|October 15, 2013
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C lociLivia Garavelli, Maria Rosaria Piemontese, Alberto Cavazza, et al.
American Journal of Medical Genetics. Part A|January 25, 2014
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutationGiancarlo Gargano, Isotta Guidotti, Eleonora Balestri, et al.
Experimental and Therapeutic Medicine|January 8, 2025
Clinical exome next‑generation sequencing panel for hereditary pheochromocytoma and paraganglioma diagnosisBeatrice Melli, Vincenza Ylenia Cusenza, Sandra Martinelli, et al.
Oncology Reports|February 22, 2008
Disease family history and modification of breast cancer risk in common BRCA2 variantsIan Jonathan Seymour, Silvia Casadei, Valentina Zampiga, et al.
American Journal of Medical Genetics. Part A|July 19, 2012
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasiaLivia Garavelli, Giancarlo Gargano, Graziella Simonte, et al.
Neurogenetics|February 24, 2025
Axonal motor polyneuropathy in a 13 years old Girl with a de Novo variant in ADNPSara Scaccini, Carlo Alberto Cesaroni, Stefano Giuseppe Caraffi, et al.
Cytogenetic and Genome Research|December 10, 2015
Cryptic 13q34 and 4q35.2 Deletions in an Italian FamilyFederica Riccardi, Gianna F Rivolta, Vera Uliana, et al.
Neurogenetics|August 21, 2020
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological findingIlenia Maini, Edoardo Errichiello, Stefano Giuseppe Caraffi, et al.
Genes|February 25, 2022
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological FeaturesSimonetta Rosato, Sheila Unger, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A|May 23, 2013
Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomalyLivia Garavelli, Graziella Simonte, Simonetta Rosato, et al.
Pageof 3