Результаты поиска - Orsetta Zuffardi

Отмена результатов
  1. 1
    Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

    Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? по Mathias Gautel, Orsetta Zuffardi, Alexandra Freiburg, Siegfried Labeit

    Опубликовано 1995
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  2. 2
    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era?

    Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post‐array CGH era? по The‐Hung Bui, Annalisa Vetro, Orsetta Zuffardi, Lisa G. Shaffer

    Опубликовано 2011
    Полный текст Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  3. 3
    Inverted duplications deletions: underdiagnosed rearrangements??

    Inverted duplications deletions: underdiagnosed rearrangements?? по Orsetta Zuffardi, María Clara Bonaglia, Roberto Ciccone, Roberto Giorda

    Опубликовано 2009
    Полный текст Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  4. 4
    <i>PRKACB</i> and Carney Complex

    <i>PRKACB</i> and Carney Complex по Antonella Forlino, Annalisa Vetro, Livia Garavelli, Roberto Ciccone, Edra London, Constantine A. Stratakis, Orsetta Zuffardi

    Опубликовано 2014
    Полный текст Полный текст
    Carta
    Добавить в Избранное
    Сохранить в:
  5. 5
    Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

    Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome по María Clara Bonaglia, Roberto Giorda, Renato Borgatti, G. Felisari, Chiara Gagliardi, Angelo Selicorni, Orsetta Zuffardi

    Опубликовано 2001
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  6. 6
    Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling

    Mutations in MAP3K1 tilt the balance from SOX9/FGF9 to WNT/β-catenin signaling по Johnny Loke, Alexander Pearlman, Orietta Radi, Orsetta Zuffardi, Ursula Giussani, R Pallotta, Giovanna Camerino, Harry Ostrer

    Опубликовано 2013
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  7. 7
    XX males SRY negative: a confirmed cause of infertility

    XX males SRY negative: a confirmed cause of infertility по Annalisa Vetro, Roberto Ciccone, Roberto Giorda, Maria Grazia Patricelli, Erika Della Mina, Antonella Forlino, Orsetta Zuffardi

    Опубликовано 2011
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  8. 8
    Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

    Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome по María Clara Bonaglia, Roberto Giorda, Elisa Mani, Giammarco Aceti, B-M Anderlid, Anna Baroncini, Tiziano Pramparo, Orsetta Zuffardi

    Опубликовано 2005
    Полный текст
    Carta
    Добавить в Избранное
    Сохранить в:
  9. 9
    Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences.

    Types, stability, and phenotypic consequences of chromosome rearrangements leading to interstitial telomeric sequences. по Elena Rossi, Giovanna Floridia, Massimiliano Casali, Cesare Danesino, G Chiumello, Franca Bernardi, Ivana Magnani, Laura Papi, Manuela Mura, Orsetta Zuffardi

    Опубликовано 1993
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  10. 10
    Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

    Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor по Daniele Ghezzi, Irina F. Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D’Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

    Опубликовано 2010
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  11. 11
    Transmission of a Fully Functional Human Neocentromere through Three Generations

    Transmission of a Fully Functional Human Neocentromere through Three Generations по Chris Tyler‐Smith, Giorgio Gimelli, Sabrina Giglio, Giovanna Floridia, Arpita Pandya, G. L. Terzoli, Peter E. Warburton, William C. Earnshaw, Orsetta Zuffardi

    Опубликовано 1999
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  12. 12
    <i>SMARCA4</i> inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type

    <i>SMARCA4</i> inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type по Edoardo Errichiello, Noor Mustafa, Annalisa Vetro, Lucia Dora Notarangelo, Hugo de Jonge, Berardo Rinaldi, Debora Vergani, Sabrina Giglio, Patrizia Morbini, Orsetta Zuffardi

    Опубликовано 2017
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  13. 13
    Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs

    Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs по Elena Rossi, Orietta Radi, Lisa De Lorenzi, Annalisa Vetro, D. Groppetti, Enrico Bigliardi, G.C. Luvoni, Ada Rota, Giovanna Camerino, Orsetta Zuffardi, P. Parma

    Опубликовано 2014
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  14. 14
    A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implications for Human Sterility

    A Human Homologue of the Drosophila melanogaster diaphanous Gene Is Disrupted in a Patient with Premature Ovarian Failure: Evidence for Conserved Function in Oogenesis and Implicat... по Silvia Bione, Cinzia Sala, M. Chiara Manzini, Giulia Arrigo, Orsetta Zuffardi, Sandro Banfi, Giuseppe Borsani, Philippe Jonveaux, Christophe Philippe, Maurizio Zuccotti, Andrea Ballabio, Daniela Toniolo

    Опубликовано 1998
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  15. 15
    The introduction of arrays in prenatal diagnosis: A special challenge

    The introduction of arrays in prenatal diagnosis: A special challenge по Annalisa Vetro, Katelijne Bouman, Ros Hastings, Dominic McMullan, Joris Vermeesch, Konstantin Miller, Birgit Sikkema‐Raddatz, David H. Ledbetter, Orsetta Zuffardi, Conny M.A. van Ravenswaaij‐Arts

    Опубликовано 2012
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  16. 16
    Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation

    Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation по Renata Bocciardi, Roberto Giorda, Jens Buttgereit, Stefania Gimelli, Maria Teresa Divizia, Silvana Beri, Silvio Garofalo, Sara Tavella, Margherita Lerone, Orsetta Zuffardi, Michael Bäder, Roberto Ravazzolo, Giorgio Gimelli

    Опубликовано 2007
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  17. 17
    MCT8 Deficiency

    MCT8 Deficiency по Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna Schmidt, Christin Collins, Francesca Novara, Antonia Di Genni, Alda Mita, Fabio Triulzi, Janice Brunstrom-Hernandez, Orsetta Zuffardi, Umberto Balottin, Simona Orcesi

    Опубликовано 2012
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  18. 18
    Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements

    Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements по Sabrina Giglio, Karl W. Broman, Naomichi Matsumoto, Vladimiro Calvari, Giorgio Gimelli, Thomas Neumann, Hirofumi Ohashi, Lucille Voullaire, Daniela Larizza, Roberto Giorda, Jim L. Weber, David H. Ledbetter, Orsetta Zuffardi

    Опубликовано 2001
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  19. 19
    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

    Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance по Jill Clayton‐Smith, Sarah Walters, Emma Hobson, Emma Burkitt‐Wright, Rupert Smith, Annick Toutain, Jeanne Amiel, Stanislas Lyonnet, Sahar Mansour, David Fitzpatrick, Roberto Ciccone, Ivana Ricca, Orsetta Zuffardi, Dian Donnai

    Опубликовано 2008
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  20. 20
    Identification of <i>de novo</i> mutations and rare variants in hypoplastic left heart syndrome

    Identification of <i>de novo</i> mutations and rare variants in hypoplastic left heart syndrome по Maria Iascone, Roberto Ciccone, Lorenzo Galletti, Daniela Marchetti, Francesco Seddio, A R Lincesso, Laura Pezzoli, Annalisa Vetro, D Barachetti, Lorenzo Boni, Duccio Federici, AM Soto, JV Comas, P Ferrazzi, Orsetta Zuffardi

    Опубликовано 2011
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:

Инструменты поиска: