Resultados de procura - Angela Peron

P566: Global genetic health assessment project: Let's not leave anyone behind por Aya Abu-El-Haija, Stacey Cook, Nathan Keegan, Angela Peron

Ligazón do recurso

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis por Marco Montini, Lorenzo Bonacchi, Diletta Sidoti, Stefano Cuccoli, Marilena Pantaleo, Angela Peron, Irene Scuffi, Marcos F. DosSantos, Romina Nassini, Francesco De Logu, Laura Papi

Ligazón do recurso

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature por Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi

Ligazón do recurso

O43: Characterization of the prenatal renal phenotype associated with 17q12/HNF1B microdeletions por Courtney Verscaj, Frances Velez-Bartolomei, Ethan Bodle, Katie Chan, Michael Lyons, Willa Thorson, Wen-Hann Tan, John Graham, Angela Peron, Fabiola Quintero-Rivera, Elaine Zackai, Mary Ann Thomas, Cathy Stevens, Margaret Adam, Lynne Bird, Marilyn Jones, Dena Matalon

Ligazón do recurso

Multimodal phenotyping of foveal hypoplasia in albinism and albino-like conditions: a pediatric case series with adaptive optics insights por Giacomo M. Bacci, Elisa Marziali, Sara Bargiacchi, Michel Paques, Gianni Virgili, Pina Fortunato, Marine Durand, Camilla Rocca, Angelica Pagliazzi, Viviana Palazzo, Lucia Tiberi, Debora Vergani, Samuela Landini, Angela Peron, Rosangela Artuso, Bianca Pacini, Monica Stabile, Andrea Sodi, Roberto Caputo

Ligazón do recurso

P267: TSC1/TSC2 mosaicism is found in ∼13% of individuals with tuberous sclerosis and is associated with a distinctive phenotypic severity por Angela Peron, Rosa Maria Alfano, Barry Moore, Mark Nellist, Brent Pedersen, Francesca La Briola, Luigina Spaccini, Federica Natacci, Maria Paola Recalcati, Valentina Chiesa, Rosangela Arancio, Ugo Cavallari, Chiara Vannicola, Graziella Cefalo, Silvia Maitz, Stefania Bigoni, Lorenzo Gualandri, Cristina Gervasini, Pierangelo Veggiotti, Wilfred van Ijcken, Aglaia Vignoli, Gaetano Pietro Bulfamante, John Carey, Maria Paola Canevini

Ligazón do recurso

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder por Maggie M. K. Wong, Rosalie A. Kampen, Ruth O. Braden, Gökberk Alagöz, Michael S. Hildebrand, Alexander J. M. Dingemans, Jean Corbally, Joery den Hoed, Ezequiel Mendoza, Willemijn J. J. Claassen, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert B. A. de Vries, Frances Elmslie, Giovanni Battista Ferrero, Nadieh A. Jansen, Ingrid M. B. H. van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E. Scheffer, Fabio Sirchia, Samantha J. Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K. Chung, Marion Gerard, Vanesa López-González, Elizabeth Palmer, Angela T. Morgan, Bregje W. van Bon, Simon E. Fisher

Ligazón do recurso