Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype by Sébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, Tony Kayembe Kitenge, Leon Kabamba Ngombe, Prosper Kalenga Muenze, Prosper Lukusa Tshilobo, François Tshilombo Katombe, Célestin Banza Lubaba Nkulu, Koenraad Devriendt

Get full text

Longitudinal kidney outcomes in surviving COVID-19 patients in Africa: a prospective Congolese single-center cohort study by Yannick Mayamba Nlandu, Jean-Robert Rissassi Makulo, Marie Essig, Yannick Mompango Engole, Marie-France Ingole Mboliasa, Aliocha Natuhoyila Nkodila, Vieux Momeme Mokoli, Clarisse Nsenga Nkondi, Augustin Luzayadio Longo, François Musungayi Kajingulu, Cédric Kabemba Ilunga, Chantal Vuvu Zinga, Evariste Mukendi Kadima, Justine Busanga Bukabau, Steve Mundeke Ahuka, Aimé Lumaka, Nazaire Mangani Nseka, Ernest Kiswaya Sumaili

Get full text

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions by Simone Baldovino, Savino Sciascia, Claudio Carta, Marco Salvatore, Laura L. Cellai, Gianluca Ferrari, Aimé Lumaka, Stephen Groft, Yasemin Alanay, Maleeha Azam, Gareth Baynam, Helene Cederroth, Eva Maria Cutiongco-de la Paz, Vajira Harshadeva Weerabaddana Dissanayake, Roberto Giugliani, Claudia Gonzaga-Jauregui, Dineshani Hettiarachchi, Oleg Kvlividze, Guida Landoure, Prince Makay, Béla Melegh, Ugur Ozbek, Karaman Pagava, Ratna Dua Puri, Vaness I. Romero, Vinod Scaria, Saumya S. Jamuar, Vorasuk Shotelersuk, Dario Roccatello, William A. Gahl, Samuel A. Wiafe, Olaf Bodamer, Manuel Posada, Domenica Taruscio

Get full text

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

Get full text

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

Get full text