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Orsetta Zuffardi

Showing results (11-20 of 222) with videos related to

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Cancer Genetics|November 13, 2020
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndromeEdoardo Errichiello, Tommaso Mina, Patrizia Morbini, et al.
European Journal of Medical Genetics|September 5, 2022
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletionMaria Clara Bonaglia, Marco Fichera, Susan Marelli, et al.
Frontiers in Immunology|August 10, 2019
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic HypothesisEdoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, et al.
Case Reports in Obstetrics and Gynecology|September 12, 2014
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during PregnancyAmelia Caretto, Liviana Primerano, Francesca Novara, et al.
Molecular Genetics & Genomic Medicine|December 19, 2020
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanismEdoardo Errichiello, Roberto Giorda, Antonella Gambale, et al.
Iranian Journal of Reproductive Medicine|July 18, 2014
A newborn with ambiguous genitalia and a complex X;Y rearrangementMohammadreza Dehghani, Elena Rossi, Annalisa Vetro, et al.
European Journal of Medical Genetics|December 5, 2006
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGHManuela Priolo, Roberto Ciccone, Irene Bova, et al.
European Journal of Medical Genetics|November 15, 2020
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndromeEdoardo Errichiello, Alessandro Malara, Gianluca Grimod, et al.
European Journal of Human Genetics : EJHG|September 25, 2008
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplicationsMaria Clara Bonaglia, Roberto Giorda, Angelo Massagli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 17, 2024
Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple MalformationsUgo Sorrentino, Elisa Baschiera, Maria Andrea Desbats, et al.
Pageof 23

Showing results (11-20 of 222) with videos related to

Sort By:
Pageof 23
Cancer Genetics|November 13, 2020
FANCA, TP53, and del(5q)/RPS14 alterations in a patient with T-cell non-Hodgkin lymphoma and concomitant Fanconi anemia and Li-Fraumeni syndromeEdoardo Errichiello, Tommaso Mina, Patrizia Morbini, et al.
European Journal of Medical Genetics|September 5, 2022
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletionMaria Clara Bonaglia, Marco Fichera, Susan Marelli, et al.
Frontiers in Immunology|August 10, 2019
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic HypothesisEdoardo Errichiello, Efthimios Dardiotis, Fiorenza Mannino, et al.
Case Reports in Obstetrics and Gynecology|September 12, 2014
A Therapeutic Challenge: Liddle's Syndrome Managed with Amiloride during PregnancyAmelia Caretto, Liviana Primerano, Francesca Novara, et al.
Molecular Genetics & Genomic Medicine|December 19, 2020
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanismEdoardo Errichiello, Roberto Giorda, Antonella Gambale, et al.
Iranian Journal of Reproductive Medicine|July 18, 2014
A newborn with ambiguous genitalia and a complex X;Y rearrangementMohammadreza Dehghani, Elena Rossi, Annalisa Vetro, et al.
European Journal of Medical Genetics|December 5, 2006
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGHManuela Priolo, Roberto Ciccone, Irene Bova, et al.
European Journal of Medical Genetics|November 15, 2020
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndromeEdoardo Errichiello, Alessandro Malara, Gianluca Grimod, et al.
European Journal of Human Genetics : EJHG|September 25, 2008
A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplicationsMaria Clara Bonaglia, Roberto Giorda, Angelo Massagli, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|October 17, 2024
Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple MalformationsUgo Sorrentino, Elisa Baschiera, Maria Andrea Desbats, et al.
Pageof 23