MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB von Guevara‐Fujita, María Luisa, Huaman‐Dianderas, Francia, Obispo, Daisy, Sánchez, Rodrigo, Barrenechea, Victor, Rojas‐Málaga, Diana, Estrada‐Cuzcano, Alejandro, Trubnykova, Milana, Cornejo‐Olivas, Mario, Marca, Victoria, Gallardo, Bertha, Dueñas‐Roque, Milagros, Protzel, Ana, Castañeda, Carlos, Abarca, Hugo, Celis, Luis, La Serna‐Infantes, Jorge, Fujita, Ricardo

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Genetics and genomics in Peru: Clinical and research perspective von Guio, Heinner, Poterico, Julio A., Levano, Kelly S., Cornejo‐Olivas, Mario, Mazzetti, Pilar, Manassero‐Morales, Gioconda, Ugarte‐Gil, Manuel F., Acevedo‐Vásquez, Eduardo, Dueñas‐Roque, Milagros, Piscoya, Alejandro, Fujita, Ricardo, Sanchez, Cesar, Casavilca‐Zambrano, Sandro, Jaramillo‐Valverde, Luis, Sullcahuaman‐Allende, Yasser, Iglesias‐Pedraz, Juan M., Abarca‐Barriga, Hugo

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Factores asociados a la presencia de fisura labiopalatina en recién nacidos en un hospital peruano de tercer nivel de atención. Un estudio de casos y controles von Plasencia-Dueñas, Esteban A., Díaz-Vélez, Cristian, Dueñas-Roque, Milagros M.

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TRANSVERSALIDAD DEL DERECHO AMBIENTAL Y CRIMINALIZACION DE LAS PROTESTAS SOCIALES von Dueñas Roque, Diana Milagros

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Novel mutation in ENG gene causing Hereditary Hemorrhagic Telangiectasia in a Peruvian family von Zevallos-Morales, Alejandro, Murillo, Alexis, Dueñas-Roque, Milagros M, Prötzel, Ana, Venegas-Tresierra, Luis, Ángeles-Villalba, Verónica, Guevara-Cruz, Miguel, Chávez-Gil, Ada, Fujita, Ricardo, Guevara-Fujita, Maria L

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MYT1 role in the microtia‐craniofacial microsomia spectrum von Luquetti, Daniela V., Heike, Carrie L., Zarante, Ignacio, Timms, Andrew E., Gustafson, Jonas, Pachajoa, Harry, Porras‐Hurtado, Gloria L., Ayala‐Ramirez, Paola, Duenas‐Roque, Milagros M., Jimenez, Natalia, Ibanez, Lina M., Hurtado‐Villa, Paula

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Haploinsufficiency of SF3B2 causes craniofacial microsomia von Timberlake, Andrew T., Griffin, Casey, Heike, Carrie L., Hing, Anne V., Cunningham, Michael L., Chitayat, David, Davis, Mark R., Doust, Soghra J., Drake, Amelia F., Duenas-Roque, Milagros M., Goldblatt, Jack, Gustafson, Jonas A., Hurtado-Villa, Paula, Johns, Alexis, Karp, Natalya, Laing, Nigel G., Magee, Leanne, Mullegama, Sureni V., Pachajoa, Harry, Porras-Hurtado, Gloria L., Schnur, Rhonda E., Slee, Jennie, Singer, Steven L., Staffenberg, David A., Timms, Andrew E., Wise, Cheryl A., Zarante, Ignacio, Saint-Jeannet, Jean-Pierre, Luquetti, Daniela V.

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease von Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C., Campo, Miguel del, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M., Urraca, Nora, Bosfield, Kerri, Brown, Chester W., Lydigsen, Holly, Mroczkowski, Henry J., Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Peña, Lumaka, Aimé, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D., Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S., Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E., Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S., Perry, Denise L., Belmont, John, Taft, Ryan J.

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Damaging variants in FOXI3 cause microtia and craniofacial microsomia von Quiat, Daniel, Timberlake, Andrew T., Curran, Justin J., Cunningham, Michael L., McDonough, Barbara, Artunduaga, Maria A., DePalma, Steven R., Duenas-Roque, Milagros M., Gorham, Joshua M., Gustafson, Jonas A., Hamdan, Usama, Hing, Anne V., Hurtado-Villa, Paula, Nicolau, Yamileth, Osorno, Gabriel, Pachajoa, Harry, Porras-Hurtado, Gloria L., Quintanilla-Dieck, Lourdes, Serrano, Luis, Tumblin, Melissa, Zarante, Ignacio, Luquetti, Daniela V., Eavey, Roland D., Heike, Carrie L., Seidman, Jonathan G., Seidman, Christine E.

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Factores asociados a la supervivencia al año de vida en neonatos con cardiopatía congénita severa en un hospital nacional de Perú von Torres-Romucho, Camilo E., Uriondo-Oré, Victor G., Ramirez-Palomino, Alberto J., Arroyo-Hernández, Hugo, Loo-Valverde, Maria, Protzel-Pinedo, Ana, Dueñas-Roque, Milagros

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Clinical genome sequencing in patients with suspected rare genetic disease in Peru von Bazalar-Montoya, Jeny, Cornejo-Olivas, Mario, Duenas-Roque, Milagros M., Purizaca-Rosillo, Nelson, Rodriguez, Richard S., Milla-Neyra, Karina, De La Torre-Hernandez, Carlos A., Sarapura-Castro, Elison, Galarreta Aima, Carolina I., Manassero-Morales, Gioconda, Chávez-Pasco, Giulliana, Celis-García, Luis, La Serna-Infantes, Jorge E., Chekalin, Evgenii, Thorpe, Erin, Taft, Ryan J.

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P624: Performance and impact of clinical genome sequencing in patients with suspected rare genetic diseases in Peru von Thorpe, Erin, Duenas-Roque, Milagros, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Purizaca-Rosillo, Nelson, Rodriguez, Richard, Milla-Neyra, Karina, De La Torre-Hernandez, Carlos, Sarapura-Castro, Elison, Aima, Carolina Galarreta, Manassero-Morales, Gioconda, Chávez-Pasco, Giulliana, Celis-García, Luis, La Serna, Jorge, Taft, Ryan

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New SHH and Known SIX3 Variants in a Series of Latin American Patients with Holoprosencephaly von de Castro, Viviane Freitas, Mattos, Daniel, de Carvalho, Flavia Martinez, Cavalcanti, Denise Pontes, Duenas-Roque, Milagros M., Llerena Jr, Juan, Cosentino, Viviana Raquel, Honjo, Rachel Sayuri, Leite, Julio Cesar Loguercio, Sanseverino, Maria Teresa, de Souza, Márcia Pereira Alves, Bernardi, Pricila, Bolognese, Ana Maria, Santana da Silva, Luiz Carlos, Barbero, Pablo, Correia, Patricia Santana, Bueno, Larissa Souza Mario, Savastano, Clarice Pagani, Orioli, Iêda Maria

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Research Article Human and Medical Genetics von Zevallos-Morales, Alejandro, Murillo, Alexis, Dueñas-Roque, Milagros M, Prötzel, Ana, Venegas-Tresierra, Luis, Ángeles-Villalba, Verónica, Guevara-Cruz, Miguel, Chávez-Gil, Ada, Fujita, Ricardo, Guevara-Fujita, Maria L

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Factors associated with survival at one year of life in neonates with severe congenital cardiopathy in A National Hospital in Peru von Torres-Romucho, Camilo E, Uriondo-Ore, Victor G, Ramirez-Palomino, Alberto J, Arroyo-Hernández, Hugo, Loo-Valverde, Maria, Protzel-Pinedo, Ana, Dueñas-Roque, Milagros

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SENTENCIAS EMITIDAS EN EL PROCESO DE AMPARO Y LA TEORÍA DE LA ARGUMENTACIÓN JURÍDICA EN EL NEOCONSTITUCIONALISMO von Dueñas Roque, Diana Milagros

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O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients von Taft, Ryan, Thorpe, Erin, Belmont, John, Williams, Taylor, Shaw, Chad, Button, Jason, Ortega, Julia, Robinson, Keisha, Jones, Marilyn, Masser-Frye, Diane, Basel, Donald, Brown, Chester, Vaux, Keith, Lumaka, Aime, Sirchia, Fabio, Roque, Milagros Dueñas, Cornejo-Olivas, Mario, Bazalar-Montoya, Jeny, Urraca, Nora, Salguero, Alejandra, Wiafe, Samuel, Foster-Bonds, Romina, Royer, Erin, Gallas, Michelle, Magoulas, Pilar, Vanderver, Adeline, Shinawi, Marwan, Taylor, Alan, Fishler, Kristen, Henry, Duncan, Salyakina, Daria, Gibson, Kate, Lah, Melissa, Malhotra, Alka, Avecilla, James, Warren, Andrew, Perry, Denise, Arseneault, Max

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The impact of clinical genome sequencing in a global population with suspected rare genetic disease von Thorpe, Erin, Williams, Taylor, Shaw, Chad, Chekalin, Evgenii, Ortega, Julia, Robinson, Keisha, Button, Jason, Jones, Marilyn C, del Campo, Miguel, Basel, Donald, McCarrier, Julie, Keppen, Laura Davis, Royer, Erin, Foster-Bonds, Romina, Duenas-Roque, Milagros M, Urraca, Nora, Bosfield, Kerri, Brown, Chester W, Lydigsen, Holly, Mroczkowski, Henry J, Ward, Jewell, Sirchia, Fabio, Giorgio, Elisa, Vaux, Keith, Salguero, Hildegard Pena, Lumaka, Aime, Mubungu, Gerrye, Makay, Prince, Ngole, Mamy, Lukusa, Prosper Tshilobo, Vanderver, Adeline, Muirhead, Kayla, Sherbini, Omar, Lah, Melissa D, Anderson, Katelynn, Bazalar-Montoya, Jeny, Rodriguez, Richard S, Cornejo-Olivas, Mario, Milla-Neyra, Karina, Shinawi, Marwan, Magoulas, Pilar, Henry, Duncan, Gibson, Kate, Wiafe, Samuel, Jayakar, Parul, Salyakina, Daria, Masser-Frye, Diane, Serize, Arturo, Perez, Jorge E, Taylor, Alan, Shenbagam, Shruti, Abou Tayoun, Ahmad, Malhotra, Alka, Bennett, Maren, Rajan, Vani, Avecilla, James, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S, Perry, Denise L, Belmont, John, Taft, Ryan J

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Turner syndrome in diverse populations von Kruszka, Paul, Addissie, Yonit A., Tekendo‐Ngongang, Cedrik, Jones, Kelly L., Savage, Sarah K., Gupta, Neerja, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Aravena, Teresa, Nampoothiri, Sheela, Yesodharan, Dhanya, Girisha, Katta M., Patil, Siddaramappa Jagdish, Jamuar, Saumya Shekhar, Goh, Jasmine Chew‐Yin, Utari, Agustini, Sihombing, Nydia, Mishra, Rupesh, Chitrakar, Neer Shoba, Iriele, Brenda C., Lulseged, Ezana, Megarbane, Andre, Uwineza, Annette, Oyenusi, Elizabeth Eberechi, Olopade, Oluwarotimi Bolaji, Fasanmade, Olufemi Adetola, Duenas‐Roque, Milagros M., Thong, Meow‐Keong, Tung, Joanna Y. L., Mok, Gary T. K., Fleischer, Nicole, Rwegerera, Godfrey M., Herreros, María Beatriz, Watts, Johnathan, Fieggen, Karen, Huckstadt, Victoria, Moresco, Angélica, Obregon, María Gabriela, Hussen, Dalia Farouk, Ashaat, Neveen A., Ashaat, Engy A., Chung, Brian H. Y., Badoe, Eben, Faradz, Sultana M. H., El Ruby, Mona O., Shotelersuk, Vorasuk, Wonkam, Ambroise, Ekure, Ekanem Nsikak, Phadke, Shubha R., Richieri‐Costa, Antonio, Muenke, Maximilian

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Teoría del estado para Latinoamérica: sus contenidos y dificultades von Dueñas Roque, Diana Milagros

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