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Orsetta Zuffardi

Showing results (31-40 of 222) with videos related to

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Frontiers in Genetics|October 9, 2023
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variantsMaria Clara Bonaglia, Eliana Salvo, Manuela Sironi, et al.
European Journal of Medical Genetics|December 3, 2014
Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literatureElisa Tassano, Roberta Biancheri, Laura Denegri, et al.
Prenatal Diagnosis|April 12, 2020
Noninvasive prenatal diagnosis in a family at risk for Fraser syndromeAldesia Provenzano, Viviana Palazzo, Paolo Reho, et al.
Human Molecular Genetics|October 19, 2013
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signalingJohnny Loke, Alexander Pearlman, Orietta Radi, et al.
European Journal of Medical Genetics|October 7, 2022
SCN2A and arrhythmia: A potential correlation? A case report and literature reviewChryssoula Tzialla, Alessia Arossa, Savina Mannarino, et al.
Journal of Medical Genetics|June 10, 2011
XX males SRY negative: a confirmed cause of infertilityAnnalisa Vetro, Roberto Ciccone, Roberto Giorda, et al.
American Journal of Medical Genetics|September 24, 2002
20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 MbMaria Clara Bonaglia, Roberto Giorda, Romeo Carrozzo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 4, 2007
Renal hypoplasia without optic coloboma associated with PAX2 gene deletionElisa Benetti, Lina Artifoni, Leonardo Salviati, et al.
Molecular Cytogenetics|June 26, 2014
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletionAnnalisa Vetro, Sara Pagani, Margherita Silengo, et al.
American Journal of Human Genetics|August 16, 2006
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancyLeonardo Salviati, Mariagrazia Patricelli, Graziella Guariso, et al.
Pageof 23

Showing results (31-40 of 222) with videos related to

Sort By:
Pageof 23
Frontiers in Genetics|October 9, 2023
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variantsMaria Clara Bonaglia, Eliana Salvo, Manuela Sironi, et al.
European Journal of Medical Genetics|December 3, 2014
Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literatureElisa Tassano, Roberta Biancheri, Laura Denegri, et al.
Prenatal Diagnosis|April 12, 2020
Noninvasive prenatal diagnosis in a family at risk for Fraser syndromeAldesia Provenzano, Viviana Palazzo, Paolo Reho, et al.
Human Molecular Genetics|October 19, 2013
Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signalingJohnny Loke, Alexander Pearlman, Orietta Radi, et al.
European Journal of Medical Genetics|October 7, 2022
SCN2A and arrhythmia: A potential correlation? A case report and literature reviewChryssoula Tzialla, Alessia Arossa, Savina Mannarino, et al.
Journal of Medical Genetics|June 10, 2011
XX males SRY negative: a confirmed cause of infertilityAnnalisa Vetro, Roberto Ciccone, Roberto Giorda, et al.
American Journal of Medical Genetics|September 24, 2002
20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 MbMaria Clara Bonaglia, Roberto Giorda, Romeo Carrozzo, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 4, 2007
Renal hypoplasia without optic coloboma associated with PAX2 gene deletionElisa Benetti, Lina Artifoni, Leonardo Salviati, et al.
Molecular Cytogenetics|June 26, 2014
Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletionAnnalisa Vetro, Sara Pagani, Margherita Silengo, et al.
American Journal of Human Genetics|August 16, 2006
Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancyLeonardo Salviati, Mariagrazia Patricelli, Graziella Guariso, et al.
Pageof 23