MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB
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
Published in Molecular genetics & genomic medicine (01.09.2021)
Published in Molecular genetics & genomic medicine (01.09.2021)
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Noonan syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú
Abarca Barriga, Hugo H., Vásquez Sotomayor, Flor de Milagros, Trubnykova, Milana, Chavesta Velásquez, Félix, Chávez Pastor, Miguel A., Gallardo Jugo, Bertha E., Poterico Rojas, Julio, Caballero Bedón, Nathaly, La Serna Infantes, Jorge, Vásquez Loarte, Tania
Published in Acta médica peruana (01.07.2020)
Published in Acta médica peruana (01.07.2020)
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Williams–Beuren syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo‐Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho‐Ming, Lo, Ivan F. M., Thong, Meow‐Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni‐Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen‐Min, Cham Breana, Gupta, Neerja, Lotz‐Esquivel, Stephanie, Badilla‐Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti‐Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Desorden esquelético con malformaciones faciales en cerámico de la cultura Moche
Purizaca-Rosillo, Nelson, Correa-Trigoso, Denis E., Gayoso, Guillermo, Gallardo-Jugo, Bertha
Published in Acta médica peruana (31.03.2020)
Published in Acta médica peruana (31.03.2020)
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Cover Image, Volume 173A, Number 9, September 2017
Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.09.2017)
Published in American journal of medical genetics. Part A (01.09.2017)
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Reporte de caso en el Perú de lactante con hendidura labial superior, doble frenillo, hamartoma de columela y canto alveolar anterior (Sindrome Pai)
Gallardo Jugo, Bertha, Abarca Barriga, Hugo, Chirinos Saire, Jessica
Published in Revista peruana de pediatría (31.12.2010)
Published in Revista peruana de pediatría (31.12.2010)
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