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1
المؤلفون: 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.
المصدر: Genetics and Molecular Biology. January 2020 43(1)
مصطلحات موضوعية: ENG, Hereditary Hemorrhagic Telangiectasia, Osler-Weber-Rendu disease
وصف الملف: text/html
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2دورية أكاديمية
المؤلفون: McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E, Bristow, Sara L, Bonkowsky, Joshua L, Perry, Michael Scott, Berg, Anne T, Borlot, Felippe, Esplin, Edward D, Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L, Aradhya, Swaroop, Haldeman-Englert, Chad R, Levy, Rebecca J, Parachuri, Venu G, Lay-Son, Guillermo, de Montellano, David J Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O, Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M, Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L, Humberson, Jennifer B, Assaf, Melissa J, Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R, Palmquist, Rachel, Hammond, Katherine C, Hwang, Sean T, Boutlier, Susan B, Nolan, Melinda, Batley, Kaitlin Y, Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W, Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L, Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M, Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S, Bupp, Caleb P, Park, Kristen L, Muller, Eric, Lupo, Pamela, Pedersen, Robert C, Arain, Amir M, Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M, Plaza, Lautaro, Kellogg, Marissa A, Lora, Evelyn G, Carson, Robert P, Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R, Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M, Trasmonte, Joseph, Burke, Rebecca J, Hurst, Anna C E, Smith, Douglas M, Massingham, Lauren J, Pisani, Laura, Costin, Carrie E, Ostrander, Betsy, Filloux, Francis M, Ananth, Amitha L, Mohamed, Ismail S, Nechai, Alla, Dao, Jasmin M, Fahey, Michael C, Aliu, Ermal, Falchek, Stephen, Press, Craig A, Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J, Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T, Espinoza, A Chris, Van Orman, Colin B, Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A, Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D, Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W, Wilson, Carey A, Guzmán, Guillermo G, Pavliuk, Mariia
المصدر: JAMA neurology ; 79 ; 12 ; 1267 ; 1276 ; United States
العلاقة: https://jamanetwork.com/journals/jamaneurology/fullarticle/2797510Test; McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V, Meibos B, Wong K, Sweney MT, Espinoza AC, Van Orman CB, Weinstock A, Kumar A, Soler-Alfonso C, Nolan DA, Raza M, Rojas Carrion MD, Chari G, Marsh ED, Shiloh-Malawsky Y, Parikh S, Gonzalez-Giraldo E, Fulton S, Sogawa Y, Burns K, Malets M, Montiel Blanco JD, Habela CW, Wilson CA, Guzmán GG, Pavliuk M. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi:10.1001/jamaneurol.2022.3651. PMID: 36315135; PMCID: PMC9623482.; http://hdl.handle.net/20.500.12648/8109Test; JAMA neurology
الإتاحة: https://doi.org/20.500.12648/8109Test
https://doi.org/10.1001/jamaneurol.2022.3651Test
https://hdl.handle.net/20.500.12648/8109Test -
3دورية أكاديمية
المؤلفون: 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.
المصدر: Genetics in Medicine ; volume 25, issue 1, page 143-150 ; ISSN 1098-3600
مصطلحات موضوعية: Genetics (clinical)
الإتاحة: https://doi.org/10.1016/j.gim.2022.09.005Test
https://api.elsevier.com/content/article/PII:S1098360022009418?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022009418?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: McKnight, Dianalee, Morales, Ana, Hatchell, Kathryn E., Bristow, Sara L., Bonkowsky, Joshua L., Perry, Michael Scott, Berg, Anne T., Borlot, Felippe, Esplin, Edward D., Moretz, Chad, Angione, Katie, Ríos-Pohl, Loreto, Nussbaum, Robert L., Aradhya, Swaroop, Haldeman-Englert, Chad R., Levy, Rebecca J., Parachuri, Venu G., Lay-Son, Guillermo, De Montellano, David J. Dávila-Ortiz, Ramirez-Garcia, Miguel Angel, Benítez Alonso, Edmar O., Ziobro, Julie, Chirita-Emandi, Adela, Felix, Temis M., Kulasa-Luke, Dianne, Megarbane, Andre, Karkare, Shefali, Chagnon, Sarah L., Humberson, Jennifer B., Assaf, Melissa J., Silva, Sebastian, Zarroli, Katherine, Boyarchuk, Oksana, Nelson, Gary R., Palmquist, Rachel, Hammond, Katherine C., Hwang, Sean T., Boutlier, Susan B., Nolan, Melinda, Batley, Kaitlin Y., Chavda, Devraj, Reyes-Silva, Carlos Alberto, Miroshnikov, Oleksandr, Zuccarelli, Britton, Amlie-Wolf, Louise, Wheless, James W., Seinfeld, Syndi, Kanhangad, Manoj, Freeman, Jeremy L., Monroy-Santoyo, Susana, Rodriguez-Vazquez, Natalia, Ryan, Monique M., Machie, Michelle, Guerra, Patricio, Hassan, Muhammad Jawad, Candee, Meghan S., Bupp, Caleb P., Park, Kristen L., Muller, Eric, Lupo, Pamela, Pedersen, Robert C., Arain, Amir M., Murphy, Andrea, Schatz, Krista, Mu, Weiyi, Kalika, Paige M., Plaza, Lautaro, Kellogg, Marissa A., Lora, Evelyn G., Carson, Robert P., Svystilnyk, Victoria, Venegas, Viviana, Luke, Rebecca R., Jiang, Huiyuan, Stetsenko, Tetiana, Dueñas-Roque, Milagros M., Trasmonte, Joseph, Burke, Rebecca J., Hurst, Anna C. E., Smith, Douglas M., Massingham, Lauren J., Pisani, Laura, Costin, Carrie E., Ostrander, Betsy, Filloux, Francis M., Ananth, Amitha L., Mohamed, Ismail S., Nechai, Alla, Dao, Jasmin M., Fahey, Michael C., Aliu, Ermal, Falchek, Stephen, Press, Craig A., Treat, Lauren, Eschbach, Krista, Starks, Angela, Kammeyer, Ryan, Bear, Joshua J., Jacobson, Mona, Chernuha, Veronika, Meibos, Bailey, Wong, Kristen, Sweney, Matthew T., Espinoza, A. Chris, Van Orman, Colin B., Weinstock, Arie, Kumar, Ashutosh, Soler-Alfonso, Claudia, Nolan, Danielle A., Raza, Muhammad, Rojas Carrion, Miguel David, Chari, Geetha, Marsh, Eric D., Shiloh-Malawsky, Yael, Parikh, Sumit, Gonzalez-Giraldo, Ernesto, Fulton, Stephen, Sogawa, Yoshimi, Burns, Kaitlyn, Malets, Myroslava, Montiel Blanco, Johnny David, Habela, Christa W., Wilson, Carey A, Guzmán, Guillermo G., Pavliuk, Mariia
المصدر: Department of Pediatrics Faculty Papers
مصطلحات موضوعية: humans, female, infant, newborn, child, preschool, adolescent, young adult, adult, middle aged, male, retrospective studies, cross-sectional studies, genetic testing, epilepsy, seizures, Medicine and Health Sciences, Neurology, Pediatrics
وصف الملف: application/pdf
العلاقة: https://jdc.jefferson.edu/pedsfp/127Test; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1130&context=pedsfpTest
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5دورية أكاديمية
المؤلفون: 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.
المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723
مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary
الإتاحة: https://doi.org/10.1038/s41467-021-24852-9Test
https://www.nature.com/articles/s41467-021-24852-9.pdfTest
https://www.nature.com/articles/s41467-021-24852-9Test -
6دورية أكاديمية
المؤلفون: 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
المصدر: Molecular Syndromology ; volume 12, issue 4, page 219-233 ; ISSN 1661-8769 1661-8777
مصطلحات موضوعية: Genetics (clinical), Genetics
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7دورية أكاديمية
المؤلفون: 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
المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Dental and Craniofacial Research
المصدر: Molecular Genetics & Genomic Medicine ; volume 8, issue 10 ; ISSN 2324-9269 2324-9269
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8
المؤلفون: Tipiani Rodríguez, Oswaldo, Ponciano Biaggi, Miguel A., Pérez Fleming, Gian C., Gonzales Enríquez, Israel M., Andrés Calvo, Liz K., Pita Álvarez, Julissa Y., Dueñas Roque, Milagros M., Pantoja Soto, Percy
المصدر: Revista Peruana de Ginecología y Obstetricia, Volume: 68, Issue: 2, Article number: 00009, Published: 06 JUL 2022
مصطلحات موضوعية: diagnosis, Hidropesía fetal, Thoracentesis, Hydrothorax, Hydrops fetalis, Terapias fetales, diagnóstico, Toracocentesis, Derrame pleural, Prenatal ultrasonography, Fetal therapies, Ultrasonografía prenatal, Hidrotórax, Pleural effusion
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______619::6035752222e69aa9e992fb504246ddc9Test
http://www.scielo.org.pe/scielo.php?script=sci_arttext&pid=S2304-51322022000200009&lng=en&tlng=enTest -
9دورية أكاديمية
المصدر: Acta Médica Peruana, ISSN 1018-8800, Vol. 37, Nº. 3, 2020, pags. 304-311
مصطلحات موضوعية: fisura del paladar, malformaciones congénitas, factores de riesgo, cleft palate, congenital malformations, risk factors
وصف الملف: application/pdf
العلاقة: https://dialnet.unirioja.es/servlet/oaiart?codigo=7680017Test; (Revista) ISSN 1018-8800
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10دورية أكاديمية
المؤلفون: 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., de 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.
المساهمون: National Human Genome Research Institute
المصدر: American Journal of Medical Genetics Part A ; volume 182, issue 2, page 303-313 ; ISSN 1552-4825 1552-4833