المؤلفون: Harrison, RE, Shyleika, V, Vishneuski, R, Leonovich, O, Vetushko, D, Skrahina, A, Mar, HT, Garsevanidze, E, Falkenstein, C, Sayakci, O

المصدر: INTERNATIONAL HEALTH.

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:160041112

المؤلفون: Weidner, JM, Kanatani, S, Uchtenhagen, H, Varas-Godoy, M, Schulte, T, Engelberg, K, Gubbels, MJ, Sun, HS, Harrison, RE, Achour, A, Barragan, A

المصدر: Cellular microbiology. 18(11):1537-1550

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:134486284

المؤلفون: Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB

المصدر: Muscle and Nerve, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/300246; https://eprints.ncl.ac.uk/fulltext.aspx?url=300246/D1AEF36E-0CD6-4322-8326-8731A1EC2893.pdf&pub_id=300246

الاتاحة: https://eprints.ncl.ac.uk/300246

المؤلفون: Tolonen, JP, Parolin Schnekenberg, R, McGowan, S, Sims, D, McEntagart, M, Elmslie, F, Shears, D, Stewart, H, Tofaris, GK, Dabir, T, Morrison, PJ, Johnson, D, Hadjivassiliou, M, Ellard, S, Shaw-Smith, C, Znaczko, A, Dixit, A, Suri, M, Sarkar, A, Harrison, RE, Jones, G, Houlden, H, Ceravolo, G, Jarvis, J, Williams, J, Shanks, ME, Clouston, P, Rankin, J, Blumkin, L, Lerman-Sagie, T, Ponger, P, Raskin, S, Granath, K, Uusimaa, J, Conti, H, McCann, E, Joss, S, Blakes, AJM, Metcalfe, K, Kingston, H, Bertoli, M, Kneen, R, Lynch, SA, Martínez Albaladejo, I, Moore, AP, Jones, WD, Genomics England Research Consortium, Becker, EBE, Németh, AH

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

Relation: https://openaccess.sgul.ac.uk/id/eprint/116007/1/Movement%20Disorders%20-%202023%20-%20Tolonen%20-%20Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides%20Diagnostics%20and%20Therapeutic.pdf; https://openaccess.sgul.ac.uk/id/eprint/116007/6/mds29651-sup-0001-figures.docx; https://openaccess.sgul.ac.uk/id/eprint/116007/8/mds29651-sup-0002-tables.docx; Tolonen, JP; Parolin Schnekenberg, R; McGowan, S; Sims, D; McEntagart, M; Elmslie, F; Shears, D; Stewart, H; Tofaris, GK; Dabir, T; et al. Tolonen, JP; Parolin Schnekenberg, R; McGowan, S; Sims, D; McEntagart, M; Elmslie, F; Shears, D; Stewart, H; Tofaris, GK; Dabir, T; Morrison, PJ; Johnson, D; Hadjivassiliou, M; Ellard, S; Shaw-Smith, C; Znaczko, A; Dixit, A; Suri, M; Sarkar, A; Harrison, RE; Jones, G; Houlden, H; Ceravolo, G; Jarvis, J; Williams, J; Shanks, ME; Clouston, P; Rankin, J; Blumkin, L; Lerman-Sagie, T; Ponger, P; Raskin, S; Granath, K; Uusimaa, J; Conti, H; McCann, E; Joss, S; Blakes, AJM; Metcalfe, K; Kingston, H; Bertoli, M; Kneen, R; Lynch, SA; Martínez Albaladejo, I; Moore, AP; Jones, WD; Genomics England Research Consortium; Becker, EBE; Németh, AH (2024) Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. Mov Disord, 39 (1). pp. 141-151. ISSN 1531-8257 https://doi.org/10.1002/mds.29651 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/116007/
https://openaccess.sgul.ac.uk/id/eprint/116007/1/Movement%20Disorders%20-%202023%20-%20Tolonen%20-%20Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides%20Diagnostics%20and%20Therapeutic.pdf
https://openaccess.sgul.ac.uk/id/eprint/116007/6/mds29651-sup-0001-figures.docx
https://openaccess.sgul.ac.uk/id/eprint/116007/8/mds29651-sup-0002-tables.docx
https://doi.org/10.1002/mds.29651

المؤلفون: Harrison, RE, Shyleika, V, Falkenstein, C, Garsevanidze, E, Vishnevskaya, O, Lonnroth, K, Sayakci, O, Sinha, A, Sitali, N, Skrahina, A, Stringer, B, Tan, C, Mar, HT, Venis, S, Vetushko, D, Viney, K, Vishneuski, R, Martin, AIC

المصدر: BMC health services research. 22(1):1217

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150793413

المؤلفون: Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martinez Albaladejo I, Moore AP, Jones WD, Becker EBE, Nemeth AH

المصدر: Movement Disorders, 2023

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/295228; https://eprints.ncl.ac.uk/fulltext.aspx?url=295228/3FC297C5-F4D4-4CA8-9930-3A5BFE8E65D1.pdf&pub_id=295228

الاتاحة: https://eprints.ncl.ac.uk/295228

المؤلفون: Harrison, RE, Hamada, A, Haswell, N, Groves, A, Vihta, K, Cella, K, Garner, S, Walker, AS, Seale, AC

Relation: https://ora.ox.ac.uk/objects/uuid:4e4d78ed-1eb3-43a9-a854-0f317bf1e85c; https://doi.org/10.3201/eid2910.230030

الاتاحة: https://doi.org/10.3201/eid2910.230030
https://ora.ox.ac.uk/objects/uuid:4e4d78ed-1eb3-43a9-a854-0f317bf1e85c

المؤلفون: Sa, MJ Nabais, Jensik, PJ, Parker, MJ, Lahiri, N, McNeil, EP, Hibbs, K, Kroes, HY, Stumpel, CTRM, Stegmann, APA, Hagerman, RJ, Harrison, RE, Splitt, M, Montgomery, T, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Cobben, J, Marco, EJ, de Vries, BBA, Vulto-vanSilfhout, AT, Palmer, Elizabeth

المصدر: urn:ISSN:1018-4813 ; urn:ISSN:1476-5438 ; 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 2018-06-16 - 2018-06-19

مصطلحات موضوعية: anzsrc-for: 0604 Genetics, anzsrc-for: 1103 Clinical Sciences

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_62875; https://unsworks.unsw.edu.au/bitstreams/739b7c87-ded6-4918-b64d-13d54dd9cbb9/download; https://doi.org/10.26190/unsworks/27465

الاتاحة: http://hdl.handle.net/1959.4/unsworks_62875
https://unsworks.unsw.edu.au/bitstreams/739b7c87-ded6-4918-b64d-13d54dd9cbb9/download
https://doi.org/10.26190/unsworks/27465

المؤلفون: Nabais Sá, MJ, Jensik, PJ, McGee, SR, Parker, MJ, Lahiri, N, McNeil, EP, Kroes, HY, Hagerman, RJ, Harrison, RE, Montgomery, T, Splitt, M, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Amiel, J, Heron, D, Keren, B, Cobben, JM, Menke, LA, Marco, EJ, Graham, JM, Pierson, TM, Karimiani, EG, Maroofian, R, Manzini, MC, Cauley, ES, Colombo, R, Odent, S, Dubourg, C, Phornphutkul, C, de Brouwer, APM, de Vries, BBA, Vulto-vanSilfhout, AT, Palmer, Elizabeth

المصدر: urn:ISSN:1098-3600 ; urn:ISSN:1530-0366 ; Genetics in Medicine, 21, 9, 2059-2069

مصطلحات موضوعية: 31 Biological Sciences, 3105 Genetics, Neurosciences, Clinical Research, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Autistic Disorder, Child, Preschool, DNA-Binding Proteins, Developmental Disabilities, Exome, Female, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Microcephaly, Mutation, Missense, Transcription Factors, Young Adult, DEAF1, genotype

وصف الملف: application/pdf

Relation: http://purl.org/au-research/grants/nhmrc/APP1114963; http://hdl.handle.net/1959.4/unsworks_61595

الاتاحة: http://hdl.handle.net/1959.4/unsworks_61595
https://unsworks.unsw.edu.au/bitstreams/38f26991-1f4b-4f11-80af-2194e289890e/download
https://doi.org/10.1038/s41436-019-0473-6

المؤلفون: Shrey Nihalani, BS, BA, Harrison Reeves, BS, Pearce Lane, MD, Mack Padgett, MD, Gerald Mcgwin, PhD, Michael J. Conklin, MD, Kevin A. Williams, MD

المصدر: Journal of the Pediatric Orthopaedic Society of North America, Vol 10, Iss , Pp 100141- (2025)

مصطلحات موضوعية: Delay, Timing, Transfer, Supracondylar humerus fracture, Orthopedic surgery, RD701-811, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2768276524009672; https://doaj.org/toc/2768-2765

URL الوصول: https://doaj.org/article/1d346c3587cc49ce848f216f7c0b87ff

المؤلفون: Pagnamenta, AT, Murakami, Y, Taylor, JM, Anzilotti, C, Howard, MF, Miller, V, Johnson, DS, Tadros, S, Mansour, S, Temple, IK, Firth, R, Rosser, E, Harrison, RE, Kerr, B, Popitsch, N, DDD Study, Kinoshita, T, Taylor, JC, Kini, U

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/109306/1/ejhg201732.pdf; Pagnamenta, AT; Murakami, Y; Taylor, JM; Anzilotti, C; Howard, MF; Miller, V; Johnson, DS; Tadros, S; Mansour, S; Temple, IK; et al. Pagnamenta, AT; Murakami, Y; Taylor, JM; Anzilotti, C; Howard, MF; Miller, V; Johnson, DS; Tadros, S; Mansour, S; Temple, IK; Firth, R; Rosser, E; Harrison, RE; Kerr, B; Popitsch, N; DDD Study; Kinoshita, T; Taylor, JC; Kini, U (2017) Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. Eur J Hum Genet, 25 (6). pp. 669-679. ISSN 1476-5438 https://doi.org/10.1038/ejhg.2017.32 SGUL Authors: Mansour, Sahar Mansour, Sahar

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/109306/
https://openaccess.sgul.ac.uk/id/eprint/109306/1/ejhg201732.pdf

المؤلفون: Schirwani S, van Dijk FS, Cauldwell M, Harrison RE, Kraus A, Brennan P, Ghali N, Lahiri N, Johnson D, Sobey G

المصدر: European Journal of Medical Genetics, October 2022

Relation: https://eprints.ncl.ac.uk/284857

الاتاحة: https://eprints.ncl.ac.uk/284857

المؤلفون: Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA

المصدر: American Journal of Medical Genetics, Part A, 2022

Relation: https://eprints.ncl.ac.uk/283457

الاتاحة: https://eprints.ncl.ac.uk/283457

المؤلفون: Rosin, C, Beals, KK, Belovitch, MW, Harrison, RE, Pendred, M, Sullivan, MK, Yao, N, Poulsen, JR

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Ecology, Environmental Sciences & Ecology, diversity, Elephant, Gabon, herbivory, Loxodonta cyclotis, physical damage, structure, tropical forest, HERBIVORES, DECLINES, IMPACTS, envir, info

Relation: https://hdl.handle.net/10161/24290

الاتاحة: https://hdl.handle.net/10161/24290

المؤلفون: Carlos J. Pérez Rivera, Nicolás Lozano-Suárez, Alejandro Velandia-Sánchez, Maria Paula Vargas-Cuellar, Luisa Fernanda Rojas-Serrano, Camilo A. Polanía-Sandoval, Daniela Lara-Espinosa, Laura García-Zambrano, Maria Paz Bohórquez-Tarazona, Silvia Valentina Agudelo-Mendoza, Paulo A. Cabrera-Rivera, Leonardo Briceno-Ayala, Camilo Andres Polania-Sandoval, María Paula Vargas-Cuéllar, Paulo Andrés Cabrera-Rivera, Danna Cruz-Reyes, Juan Guillermo Barrera Carvajal, Luis Felipe Cabrera-Vargas, Oscar Guevara, Laura Cristina Arce Polania, Laura Natalia Buendía Barrios, María Isabel Cristina Camargo Areyanes, Felipe Casas, Valeria Cormane Alfaro, Juan P. García-Méndez, Bayron Guerra, Sharon V. Idarraga-Ayala, Akram Kadamani Abiyomaa, Christopher Montoya, Manuel Santiago Mosquera Paz, María Alejandra Pineda, Juliana Pinzón-Luna, Isabella Roa Bastidas, Carlos Fernando Roman Ortega, Juan D. Saavedra Henao, Laura Carolina SanJuan-Arias, Vanessa Barreto, Julian Corso, Mariana Maksoud-Garcia, Eliana Pineda Mateus, Alejandra Vega Zabaraín, Fabien Mantilla-Sylvain, Nicolas Perez, Sergio Alzate-Ricaurte, Monica Bejarano, Isabella Caicedo Holguin, Alberto Federico García, Stefania Rodriguez Sanchez, Felipe Bernal Santos, Carlos Luna Jaspe, Maria Camila Luna-Jaspe Roa, Maria Paula OLIVERA Bolívar, MariaFernanda Valdivieso Diaz, Yuli Agudelo, Maria Paula Castillo-Aristizábal, Juan Pablo Hoyos Burgos, Maria Clara Maria Clara Mendoza Arango, Gabriel Arroyave, Felipe Buitrago Preciado, Lina María Cardona González, Juan Camilo Correa-Cote, Karen Lorena Franco Arias, Juan Felipe Llano Sierra, Gustavo López, Cesar Mancero, Sebastian Parra, Beatriz Ramirez Gonzalez, Daniela Sierra, Maria Camila Amaya Muñoz, Ashley Blanco-Ramírez, Paul Anthony Camacho, Jorge Campillo, Andrea Ximena Carvajal Mejia, María Alejandra González Yamil, Juan Carlos Osorno Villegas, Eduardo Rubio, Santiago Sánchez Herrera, Sebastian Sanchez Herrera, Tatiana Agudelo, Valentina Andrade, Laura Arango Pérez, Anibal Ariza-Gutiérrez, Jacobo Berrio, Natalia Cantillo Torres, Maria Valeria Chamorro-Rodríguez, Lucia Conde, Oscar Hernando Feo Lee, María Camila González Nieto, Laura Cecilia Ibañez-Pintor, Catalina Ochoa, Juan Ospina, Juan José Pérez-Ocampo, Esteban Portilla Rojas, Daniela Saaibi Rey, Eduardo Serrano, Sharon Michelle Solorza Velásquez, Angélica María Toro Cubides, Raúl Aguiar, Diego Armando Beltrán Rincón, Juan Sebastian Figueroa, Rafael Figueroa-Casanova, Maria Fernanda Gonzalez Mosos, Marcia Gabriela Gómez, Susana Osorno, Laura Laura Palacio, Jose Venegas, Liliana Marcela Caicedo Ramírez, Diana Catalina Cardona Gomez, Daniel Alejandro Fernandez Bolaños, Adriana Fernández-Diago, Victor David Olave Montaño, César Pastás, Silvia Marcela Amorocho, Jorge Barbosa-Santibañez, Vladimir Baron, Alejandra Cartagena-Alvarado, Maria Castillo, Maria Carolina Castillo-Florez, Omar David Dimian Mayorga, Elena Leonor Delgado-Nieto, Ernesto Fajardo, Omar Leonardo Gomez Polania, Tania Gonzalez, Daniel Felipe Guzman Mesa, Andres Isaza-Restrepo, Jaime A. Leal, Camilo Medina, Jorge Navarro-Alean, Maria Antonia Ocampo, Guillermo Oliveros, Maria Ortiz, Jorge I. Ortiz-Mahecha, Katherine Parra Abaunza, Felipe Antonio Pulido Reyes, Natalia Rivera-Rincón, Carlos Alfonso Rodriguez Pinedo, Lizeth Rodriguez Sanchez, Juan Javier Romero, Juan Carlos Sabogal Olarte, Javier Mauricio Salgado Tovar, Guillermo Andrés Torres, Linda Vallejo, Felipe Vargas-Barato, Ana María Vargas Patiño, Juan Pablo Villate León, Miguel Angel Montañez Aldana, Chiara Norato, Hugo Rojas Borda, Miguel Á Romero Núñez, Alejandro Sánchez, Jose Támara López, Jose Támara P, Wilmer Fernando Botache Capera, Rolando Medina Rojas, Juan Torres, Gina Catalina Trujillo, Gabriela Estefanía Cubillos Saavedra, Francisco García-Laverde, Jussef Camilo Naffah Enciso, Julian Arango Betancur, Adriana Cortés-Coronado, Susana Sepúlveda Tamayo, Valentina Arboleda Cardenas, Luis Guillermo García-Barrero, Jhonatan Enrique Garzón-Galindo, Lina Fernanda Torres Parada, Alejandro Arias Quintero, David Cano, Kevin Fernando Montoya Quintero, Santiago Nieto Muñoz, Paula Saza Mejía, Jesus David Gomez Barrios, María Angélica Jimeno, Ghandi Ignacio Restrepo Hernandez, Adrian Rodríguez-Sequea, Juan Carlos Varón Cotes, Hanner Enrique Acevedo Reyes, Claudia Marcela Barandica Bolaño, Maria Camila Sierra-Cote, Laura Daniela Angarita Vargas, Alix Yurany Báez Ramírez, Jose Armando Rodriguez Suarez, David Leonardo Sánchez, Silvia Natalia Sandoval Rangel, Edwin Ulloa Hurtado, Olga Esther Hernández Almanza, Rosalba Inmaculada Martínez Zubiria, Angel Alexis Muegues Salas, Diego Alexander Becerra Cardona, Fabio Hernán Cárdenas Santamaría, Juan Daniel Echeverri Castaño, Juan Sebastián Echeverri Uribe, María Helena Gaitán Buitrago, Luis Felipe Galvis Valencia, Andrea Henao Sabogal, David Felipe López Atehortúa, Juan Manuel Molina Uribe, Edwin Enrique Peñate Suárez, Heiller Torres Valencia, Marcela Velásquez Salazar, Catalina Correa, Hans García, Juan Hernández Leal, Paula Tatiana Muñoz Vargas, Dínimo José Bolívar Sáenz, Camilo Andrés Caicedo Medina, Camilo Andres Garcia Riaño, Stephanye Carrillo Gonzalez, Jaime Lorduy Gómez, Carlos Torres Madrid, Walter Torres Villa, Juan Sebastian Luengas Orozco, Camilo Avendaño Capriles, Carolina Diaz Blanco, Maria Lucía Brieva Hoyos, Paola Andrea Cantillo Moreno, Sofía Carolina Granados Mendoza, José Dario Vizcaino Lara, Karla Lizeth Babativa Peñuela, Paula Andrea Jiménez Bahamón, Jhonier Estiven Maldonado Rico, Duvan Ernesto Martínez Cortes, José Alfredo Orjuela Aragón, Lizeth Daniela Castro Roa, Julieth Sarmiento Gallego, Marta Maria Herazo Meza, Anlly Caterin Hernández Castillo, Rosa Gabriela Rojas Moncada, Lucia Fernanda Casanova Bermeo, Oscar Fernando Cortés Otero, Nicolás Diaz Pinilla, Harrison Rene Herrera Delgado, Simon Alberto Macías Segura, David Ramiro Muñoz Castrillón, Luis Ramiro Nuñez Romero, Cesar Andrés Polania Andrade, Hector Alejandro Valdez Toro, Ana María Cardozo Parrado, Jose Gonzalo Moros, Paula Andrea Nieto, Jorge Mario Patarroyo, Jose Luis Perilla Martínez, María del Pilar Torres Gutierrez, Erika Johana Benito Flórez, Mariana Vergel Gómez, Diana Ximena Robayo Rodriguez, Diego Fernando Salcedo Miranda, Maria Alejandra Triviño Cortés, William Baquero Sastre, Juan Sebastian Bonett, Eliana Cortes, Pedro Fernando Duque, Carlos Enrique Gutierrez, Piedad Echeverry, Andrés Felipe Motta Amar, Lorena Torres, Jeremias Carvajal Bautista, David Mauricio Figueroa Bohórquez, Manuel Latorre Quintana, Diego Fernando Olivera Briñez, Marcel Leonardo Quintero Contreras, Raúl Vera Gamboa, Mariana Arias Zapata, Cristhian Daniel Benavides Caipe, Luisa Fernanda Betancur Acevedo, Valentina Botero Zuluaga, Vanessa Figueroa-Espinoza, Arbey Leandro Londoño-Patiño, Santiago Moncayo-Gonzalez, Laura Sofia Puerta Suárez, Paula Camila Vargas-Arboleda, Lisbet Sofia Gonzalez Cera, Katerine Henao Toro, Leobardo de Jesus Ortiz Pino, Sergio Andrés Vasquez Vargas, Lency Naranjo Zuluaga, Jaime Chamorro Garzón, Adriana Paola Franco Rodriguez, Nataly Johana Acosta Alape, Andrés Felipe Arbelaez Mariño, Juan José Mora Herrera, Javier Felipe Ayala Muñoz, Yeiny Carina Camacho Pinzon, José Francisco Cárdenas Chacón, Liliana Andrea Peña Arenas, Gustavo Adolfo Rodriguez Camargo, Carlos Alberto Sánchez Arango, Daniel Mauricio Bolaños Ñañez, Diana Sofía Garcés-Palacios, María Alejandra Ñañez Pantoja, Omar Alejandro Ortega-Valencia, María Paula Gamboa Bernal, Juan David Lotero Gómez, Juan Sebastián Martínez-Gutiérrez, Daniel Morales-Gómez, Lina Pardo-Jiménez, Leon Miguel Fonseca Galindo, Angélica Maria Garcia Ramirez, Juan David Saurith Ramirez, Ivan Ricardo Barrero Montoya, Santiago Cadena Espitia, Salomé Pallares Rojas, Laura Camila Zapata Berrio, Diana Andrea Benavides Rodríguez, Juan Carlos Gonzalez, Sharon Valentina Idarraga, Óscar Eduardo Márquez Rodríguez, Ivi Yohana Marrugo Prieto, Laura Vanessa Soledad Machado, Rubén Luna, Nicolás Navarro Pulido, Federico Javier Nuñez Ricardo, Andrea Elena García López, Fernando Girón Luque, Nasly Patiño Jaramillo, Néstor Fabian Pedraza Alonso, Javier Yecid Acuña Acuña Rivera JY, Oscar Alexander Guevara Cruz, Juan Sebastián Martínez Buitrago, Nathalia Montoya Oviedo, Marcia Roxana Santafe Guerrero, Juanita Carolina Chaves Cortés, Francisco Mauricio Rincón Tello, Diana Fernanda Bejarano Ramirez, Nicolas Andres Cortes Mejia, Camilo Ernesto Garzon Mesa, Alejandra Moncada Pabon, Diego Rymel Triviño Alvarez, Alonso Vera Torres, Maria Alejandra Cote Martinez, Juan Manuel Machado Rodriguez, Gonzalo Nuñez Martinez, Laura Naranjo Osuna, Andres Felipe Roldan Garay, Daniel Amado, Jaime Camacho-Mackenzie, Maria Ceballos Mora, Sara Cifuentes-Navarrete, Andrea Donoso-Samper, Manuel A. Ferro, Juan C. Gómez-Cáceres, Sebastián Gómez-Galán, Ana G. Leiva, Juan Lisarazo, Maria G. López-Castaño, Sofía Martínez-Gil, M.J. Montoya, Santiago Niño-Basto, Sergio Andrés Ortigoza-Espitia, Gustavo Páez, Jesús William Ramos-Anaya, María J. Rozo, Juan P. Umana, Andres Motta Amar, Andrés Felipe Barrera Vargas, Javier Dario Maldonado Escalante, German Ricardo Molina Marroquin, Silvia Alejandra Prada Lievano

المصدر: The Lancet Regional Health. Americas, Vol 38, Iss , Pp 100862- (2024)

مصطلحات موضوعية: Global health, Public health, Surgery, Health policy, Hospital mortality, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2667193X24001893; https://doaj.org/toc/2667-193X

URL الوصول: https://doaj.org/article/f289c63cb0364ecba55541b621e12d71

المؤلفون: Schirwani, S, Albaba, S, Carere, DA, Guillen Sacoto, MJ, Milan Zamora, F, Si, Y, Rabin, R, Pappas, J, Renaud, DL, Hauser, N, Reid, E, Blanchet, P, Foulds, N, Dixit, A, Fisher, R, Armstrong, R, Isidor, B, Cogne, B, Schrier Vergano, S, Demirdas, S, Dykzeul, N, Cohen, JS, Grand, K, Morel, D, Slavotinek, A, Albassam, HF, Naik, S, Dean, J, Ragge, N, Cinzia, C, Tedesco, MG, Harrison, RE, Bouman, A, Palen, E, Challman, TD, Willemsen, MH, Vogt, J, Cunniff, C, Bergstrom, K, Walia, JS, Bruel, A-L, Kini, U, Alkuraya, FS, Slegesky, V, Meeks, N, Girotto, P, Johnson, D, DDD Study, Newbury-Ecob, R, Ockeloen, CW, Prontera, P, Lynch, SA, Li, D, Graham, JM, Balasubramanian, M

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/177791/3/ASXL3-related_syndrome%20clean%20version%20accepted.pdf; Schirwani, S, Albaba, S, Carere, DA et al. (52 more authors) (2021) Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American Journal of Medical Genetics Part A, 185 (11). pp. 3446-3458. ISSN 1552-4825

الاتاحة: https://eprints.whiterose.ac.uk/177791/
https://eprints.whiterose.ac.uk/177791/3/ASXL3-related_syndrome%20clean%20version%20accepted.pdf

المؤلفون: Harrison, RE, Berger, R, Haworth, SG, Tulloh, R, Mache, CJ, Morrell, NW, Aldred, MA, Trembath, RC

المصدر: CIRCULATION , 111 (4) pp. 435-441. (2005)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Peripheral Vascular Disease, Cardiovascular System & Cardiology, activin receptors, type I, receptors, growth factor, cell adhesion molecules, pulmonary heart disease, signal transduction, HEREDITARY HEMORRHAGIC TELANGIECTASIA, GERMLINE MUTATIONS, BMPR-II, BRANCHPOINT SEQUENCE, OUTFLOW TRACT, ENDOGLIN, GENE, DISEASE, HAPLOINSUFFICIENCY, MECHANISM

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/8771/1/8771.pdf; https://discovery.ucl.ac.uk/id/eprint/8771/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/8771/1/8771.pdf
https://discovery.ucl.ac.uk/id/eprint/8771/

المؤلفون: Nabais Sa MJ, Jensik PJ, McGee SR, Parker MJ, Lahiri N, McNeil EP, Kroes HY, Hagerman RJ, Harrison RE, Montgomery T, Splitt M, Palmer EE, Sachdev RK, Mefford HC, Scott AA, Martinez-Agosto JA, Lorenz R, Orenstein N, Berg JN, Amiel J, Heron D, Keren B, Cobben J-M, Menke LA, Marco EJ, Graham JM, Pierson TM, Karimiani EG, Maroofian R, Manzini MC, Cauley ES, Colombo R, Odent S, Dubourg C, Phornphutkul C, de Brouwer APM, de Vries BBA, Vulto-vanSilfhout AT

المصدر: Genetics in Medicine, 2019

Relation: https://eprints.ncl.ac.uk/256474

الاتاحة: https://eprints.ncl.ac.uk/256474

المؤلفون: Sa, MJN, Jensik, PJ, Parker, MJ, Lahiri, N, McNeil, EP, Hibbs, K, Kroes, HY, Stumpel, CTRM, Stegmann, APA, Hagerman, RJ, Harrison, RE, Splitt, M, Montgomery, T, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Cobben, J, Marco, EJ, de Vries, BBA, Vulto-vanSilfhout, AT

مصطلحات الفهرس: 0604 Genetics, 1103 Clinical Sciences, text, Conference Abstract

URL: http://handle.unsw.edu.au/1959.4/unsworks_62875
https://orcid.org/0000-0003-1844-215X
https://orcid.org/0000-0003-1844-215X
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المؤلفون: Reimer, TF, Mcardle, I, Mulvaney, N, Carr, J, Harrison, RE, Mclean, A

مصطلحات موضوعية: Open Access, RCUK, Compliance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8fdead04f5fe13c3dfb279742158d61