Результати пошуку - Francesca Forzano

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  1. 1
    Modelling Population Genetic Screening in Rare Neurodegenerative Diseases

    Modelling Population Genetic Screening in Rare Neurodegenerative Diseases за авторством Thomas P Spargo, Alfredo Iacoangeli, Mina Ryten, Francesca Forzano, Neil Pearce, Ammar Al‐Chalabi

    Опубліковано 2025
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  2. 2
    One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans

    One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans за авторством Heidi Howard, Carla van El, Francesca Forzano, Dragica Radojković, Emmanuelle Rial‐Sebbag, Guido de Wert, Pascal Borry, Martina C. Cornel

    Опубліковано 2017
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  3. 3
    Craniofacial characteristics of fragile X syndrome in mouse and man

    Craniofacial characteristics of fragile X syndrome in mouse and man за авторством Inge Heulens, Michael Suttie, Andrei Postnov, Nora De Clerck, Concetta Simona Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, R. Frank Kooy, Peter Hammond

    Опубліковано 2012
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  4. 4
    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

    Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome за авторством Peter Hammond, Femke Hannes, Michael Suttie, Koenraad Devriendt, Joris Vermeesch, Francesca Faravelli, Francesca Forzano, Susan Parekh, Steven Williams, Dominic McMullan, Sarah T. South, John C. Carey, Oliver Quarrell

    Опубліковано 2011
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  5. 5
    Developing a policy for paediatric biobanks: principles for good practice

    Developing a policy for paediatric biobanks: principles for good practice за авторством Kristien Hens, Carla E Van El, Pascal Borry, Anne Cambon‐Thomsen, Martina C. Cornel, Francesca Forzano, Anneke Lucassen, Christine Patch, Lisbeth Tranebjærg, Eric Vermeulen, Elena Salvaterra, Aad Tibben, Kris Dierickx

    Опубліковано 2012
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  6. 6
    Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE

    Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE за авторством Guido de Wert, Björn Heindryckx, Guido Pennings, Angus Clarke, Ursula Eichenlaub-Ritter, Carla van El, Francesca Forzano, Mariëtte Goddijn, Heidi Howard, Dragica Radojković, Emmanuelle Rial‐Sebbag, Wybo Dondorp, Basil C. Tarlatzis, Martina C. Cornel

    Опубліковано 2018
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  7. 7
    Responsible implementation of expanded carrier screening

    Responsible implementation of expanded carrier screening за авторством Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C. Cornel, Carla van El, Francesca Forzano, Alison Hall, Heidi Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A. Metcalfe, Lovro Vidmar, Guido de Wert, Wybo Dondorp, Borut Peterlin

    Опубліковано 2016
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  8. 8
    Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

    Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe за авторством Fabio Sirchia, Daniele Carrieri, Sandi Dheensa, Caroline Benjamin, Hülya Kayserili, Christophe Cordier, Carla van El, Peter D. Turnpenny, Béla Melegh, Álvaro Mendes, Tanya F. Halbersma-Konings, Irene M. van Langen, Anneke Lucassen, Angus Clarke, Francesca Forzano, Susan Kelly

    Опубліковано 2018
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  9. 9
    Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

    Opportunistic genomic screening. Recommendations of the European Society of Human Genetics за авторством Guido de Wert, Wybo Dondorp, Angus Clarke, Elisabeth Dequeker, Christophe Cordier, Zandra C. Deans, Carla van El, Florence Fellmann, Ros Hastings, Sabine Hentze, Heidi Howard, Milan Maçek, Álvaro Mendes, Christine Patch, Emmanuelle Rial‐Sebbag, Vigdís Stefànsdóttir, Martina C. Cornel, Francesca Forzano

    Опубліковано 2020
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  10. 10
    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth за авторством Nicole Revençu, Laurence M. Boon, A. Dompmartin, Paul N.M.A. Rieu, W Busch, Josée Dubois, Francesca Forzano, Johanna M. van Hagen, Sara Halbach, A. Kuechler, A.M.A. Lachmeijer, Jyrki Lähde, Laura Russell, K. O. J. Simola, John B. Mulliken, Miikka Vikkula

    Опубліковано 2013
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  11. 11
    A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome

    A specific mutation in<i>TBL1XR1</i>causes Pierpont syndrome за авторством Charlotte A. Heinen, Aldo Jongejan, Peter J. Watson, B. Redeker, Anita Boelen, Olga Boudzovitch‐Surovtseva, Francesca Forzano, Roel Hordijk, Richard I. Kelley, Ann Haskins Olney, Mary Ella Pierpont, G. Bradley Schaefer, Fiona Stewart, A.S. Paul van Trotsenburg, Eric Fliers, John W. R. Schwabe, Raoul C. M. Hennekam

    Опубліковано 2016
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  12. 12
    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

    Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes... за авторством Horacio Astudillo‐de la Vega, Alison H. Trainer, Miriam Gordillo, Moira Crosier, Hülya Kayserili, Flemming Skovby, Maria Luisa Giovannucci Uzielli, Rhonda E. Schnur, Sylvie Manouvrier, E Blair, Jane A. Hurst, Francesca Forzano, Moritz Meins, K. O. J. Simola, Annick Raas‐Rothschild, Raoul C. M. Hennekam, Ethylin Wang Jabs

    Опубліковано 2009
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  13. 13
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening за авторством Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W. Bianchi, Carsten Bergmann, Pascal Borry, Lyn S. Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi Howard, Anneke Lucassen, Kelly E. Ormond, Borut Peterlin, Dragica Radojković, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg, Carla van El, Martina C. Cornel

    Опубліковано 2015
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  14. 14
    Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

    Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics за авторством Daniele Carrieri, Heidi Howard, Caroline Benjamin, Angus Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F. Halbersma-Konings, Leigh Jackson, Hülya Kayserili, Susan Kelly, Anneke Lucassen, Álvaro Mendes, Emmanuelle Rial‐Sebbag, Vigdís Stefànsdóttir, Peter D. Turnpenny, Carla van El, Irene M. van Langen, Martina C. Cornel, Francesca Forzano

    Опубліковано 2018
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  15. 15
    Erratum: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Erratum: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening за авторством Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W. Bianchi, Carsten Bergmann, Pascal Borry, Lyn S. Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi Howard, Anneke Lucassen, Kelly E. Ormond, Borut Peterlin, Dragica Radojković, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg, Carla van El, Martina C. Cornel

    Опубліковано 2015
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  16. 16
    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 за авторством Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada‐Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, M Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, M Basly, Myriam Châabouni, Massimo Carella, Gianni Russo, María Clara Bonaglia, Orsetta Zuffardi

    Опубліковано 2014
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  17. 17
    European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

    European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death за авторством Florence Fellmann, Carla van El, Philippe Charron, Katarzyna Michaud, Heidi Howard, Sarah N. Boers, Angus Clarke, Anne‐Marie Duguet, Francesca Forzano, Silke Kauferstein, Hülya Kayserili, Anneke Lucassen, Álvaro Mendes, Christine Patch, Dragica Radojković, Emmanuelle Rial‐Sebbag, Mary N. Sheppard, Anne-Marie Tassé, Şehime Gülsün Temel, Antti Sajantila, Cristina Basso, Arthur A.M. Wilde, Martina C. Cornel

    Опубліковано 2019
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  18. 18
    The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

    The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice за авторством Francesca Forzano, Olga Antonova, Angus Clarke, Guido de Wert, Sabine Hentze, Yalda Jamshidi, Yves Moreau, Markus Perola, Inga Prokopenko, Andrew Read, Alexandre Reymond, Vigdís Stefànsdóttir, Carla van El, Maurizio Genuardi, Borut Peterlin, Carla Oliveíra, Karin Writzl, Gunnar Houge, Christophe Cordier, Heidi Howard, Milan Maçek, Béla Melegh, Álvaro Mendes, Dragica Radojković, Emmanuelle Rial‐Sebbag, Fiona Ulph, Yalda Jamshidi

    Опубліковано 2021
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  19. 19
    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care

    Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care за авторством Filomena Pirozzi, Matthew Berkseth, Rylee Shear, Lorenzo Gonzalez, Andrew E. Timms, Josef Šulc, Emily Pao, Nora Oyama, Francesca Forzano, Valerio Conti, Renzo Guerrini, Emily S Doherty, Sulagna C. Saitta, Christina M. Lockwood, Colin C. Pritchard, William B. Dobyns, Edward J. Novotny, Jason N. Wright, Russell P. Saneto, Seth D. Friedman, Jason S. Hauptman, Jeffrey G. Ojemann, Raj P. Kapur, Ghayda Mirzaa

    Опубліковано 2021
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  20. 20
    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome

    Delineation of dominant and recessive forms of <i>LZTR1</i>‐associated Noonan syndrome за авторством Alistair T. Pagnamenta, Pamela J. Kaisaki, Fenella Bennett, Emma Burkitt‐Wright, Hilary C. Martin, Matteo P. Ferla, John Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton‐Brown, Ruth Newbury‐Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D. Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, Edward Blair, Jenny C. Taylor, Helen Stewart

    Опубліковано 2019
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