Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4 by Dario Tomasini, Carlo F. Tomasini, Andrea Michelerio, Eloisa Arbustini, Fabio Sirchia, Alrun Hotz, Judith Fischer, Svenja Rademacher

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P181: Prenatal-onset hypertrophic cardiomyopathy in 54 patients with RASopathies: Understanding phenotype-genotype correlations for risk stratification, medical management and targ... by Guillaume Jouret, Dominik Brado, Jeroen Breckpot, Davide Vecchio, Mélanie Fradin, Irene Valenzuala, Paula Fernandez, Nuria Martinez, Fabio Sirchia, Alessandro Mussa, Federico Fornari, Jacqueline Aziza, Maria Isis Atallah Gonzalez, Fanny Laffargue, Gueneret Michele, Adela Chirita, Mathilde Nizon, Philippe Khau Van Kien, Francesca Mari, Anna Carrer, Maria Haanpaa, Caroline Rooryck-Thambo, Claire Beneteau, Jean-Baptiste Ichtertz, Marie Bournez, Juliette Dupont, Atilano Carcavilla, Lucia Deiros, Emikarina Rikeros, Maria De Los Angeles Gomez, Maude Grelet, Laetitia Lambert, Lucas Hérissant, Viorica Ciorna, Arthur Sorlin, Rodolphe Dard, Abdelkader Heddar, Jean-Paul Hermand, Didier Menzies

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P161: Impact and evolution of a philanthropic global network providing clinical genomic testing* by Erin Venti, Diane Masser-Frye, Miguel Del Campo, Marilyn Jones, Mario Cornejo-Olivas, Alid Manrique Palomino, Milagros Duenas-Roque, Gioconda Manassero-Morales, Jeny Bazalar-Montoya, Richard Rodriguez, Hildegard Peña Salguero, Mitzy Cervantes, Aime Lumaka, Gerrye Mubungu, Prince Makay, Mamy Ngole, Prosper Tshilobo Lukusa, Samuel Wiafe, Trudy Nyakambangwe, Patience Kuona, Gwen Kandawasvika, Nothando Napata, Adeline Vanderver, Omar Sherbini, Amy Pizzino, Donald Basel, Julie McCarrier, Marwan Shinawi, Nora Urraca, Chester Brown, Fabio Sirchia, Elisa Giorgio, Alan Taylor, Shruti Shenbagam, Ahmad Abou Tayoun, Erin Royer, Lindsey Schmidt, Denise Perry, Akanchha Kesari, Christian Marshall, Anna Pan, Kym Boycott, Meredith Gillespie, Caitlin Chisholm, Vaidehi Jobanputra, Ashley Wilson, Lena Fielding, David Schlesinger, Fernando Kok, Sharon Terry, Ryan Taft

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Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease by Alka Malhotra, Erin Thorpe, Alison J. Coffey, Revathi Rajkumar, Josephine Adjeman, Naomi Dianne Naa Adjeley Adjetey, Sharron Aglobitse, Felix Allotey, Todor Arsov, Joyce Ashong, Ebenezer Vincent Badoe, Donald Basel, Yvonne Brew, Chester Brown, Kerri Bosfield, Kari Casas, Mario Cornejo-Olivas, Laura Davis-Keppen, Abbey Freed, Kate Gibson, Parul Jayakar, Marilyn C. Jones, Martina Kawome, Aimé Lumaka, Ursula Maier, Prince Makay, Gioconda Manassero, Marilyn Marbell-Wilson, Charles Marcuccilli, Diane Masser-Frye, Julie McCarrier, Hannah-Sharon Mills, Jeny Balazar Montoya, Gerrye Mubungu, Mamy Ngole, Jorge Perez, Eniko Pivnick, Milagros M. Duenas-Roque, Hildegard Pena Salguero, Arturo Serize, Marwan Shinawi, Fabio Sirchia, Claudia Soler-Alfonso, Alan Taylor, Lauren Thompson, Gail Vance, Adeline Vanderver, Keith Vaux, Danita Velasco, Samuel Wiafe, Ryan J. Taft, Denise L. Perry, Akanchha Kesari

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