المؤلفون: Sweeney, Nathaly M, Nahas, Shareef A, Chowdhury, Shimul, Campo, Miguel Del, Jones, Marilyn C, Dimmock, David P, Kingsmore, Stephen F, RCIGM Investigators

المصدر: Cold Spring Harbor molecular case studies. 4(3)

مصطلحات موضوعية: RCIGM Investigators, Face, Neck, Humans, Hand Deformities, Congenital, Micrognathism, Heart Defects, Congenital, Abnormalities, Multiple, Critical Illness, Genomics, Phenotype, Infant, Disease Management, Female, Genome-Wide Association Study, Delayed Diagnosis, Intellectual Disability, Hernias, Diaphragmatic, Congenital, Whole Genome Sequencing, Infections, anteverted nares, aplasia/hypoplasia of the corpus callosum, central hypotonia, congenital diaphragmatic hernia, congenital mitral stenosis, failure to thrive in infancy, frontal hirsutism, malrotation of small bowel, moderate global developmental delay, perimembranous ventricular septal defect, postductal coarctation of the aorta, recurrent respiratory infections

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/26t7f4dt

المؤلفون: 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

المساهمون: 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 Davi, 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, Jame, Warren, Andrew, Arseneault, Max, Kalista, Tasha, Crawford, Ali, Ajay, Subramanian S, Perry, Denise L, Belmont, John, Taft, Ryan J

مصطلحات موضوعية: change of management, clinical genome testing, clinical utility, diagnostic equity, genetic testing, low- and middle-income, rare disease, rare genetic disease, whole-genome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/38843839; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11571/1499956

الاتاحة: https://hdl.handle.net/11571/1499956
https://doi.org/10.1016/j.ajhg.2024.05.006

المؤلفون: Fraga, Lucas Rosa, Vianna, Fernanda Sales Luiz, Campo, Miguel del, Sanseverino, Maria Teresa Vieira, Faccini, Lavinia Schuler

مصطلحات موضوعية: Teratogênese, Teratógenos

وصف الملف: application/pdf

Relation: Frontiers in genetics. Lausanne. Vol. 13 (May 2022), 901400, 2 p.; http://hdl.handle.net/10183/241644; 001142894

الاتاحة: http://hdl.handle.net/10183/241644

المؤلفون: Nevado, Julián, García-Miñaúr, Sixto, Palomares-Bralo, María, Vallespín, Elena, Guillén-Navarro, Encarna, Rosell, Jordi, Bel-Fenellós, Cristina, Mori, María Ángeles, Milá, Montserrat, Campo, Miguel del, Barrúz, Pilar, Santos-Simarro, Fernando, Obregón, Gabriela, Orellana, Carmen, Pachajoa, Harry, Tenorio, Jair Antonio, Galán, Enrique, Cigudosa, Juan C., Moresco, Angélica, Saleme, César, Castillo, Silvia, Gabau, Elisabeth, Pérez-Jurado, Luis, Barcia, Ana, Martín, Maria Soledad, Mansilla, Elena, Vallcorba, Isabel, García-Murillo, Pedro, Cammarata-Scalisi, Franco, Gonçalves Pereira, Natálya, Blanco-Lago, Raquel, Serrano, Mercedes, Ortigoza-Escobar, Juan Dario, Gener, Blanca, Seidel, Verónica Adriana, Tirado, Pilar, Lapunzina, Pablo

المصدر: Frontiers in Genetics ; volume 13 ; ISSN 1664-8021

الاتاحة: http://dx.doi.org/10.3389/fgene.2022.652454
https://www.frontiersin.org/articles/10.3389/fgene.2022.652454/full

المؤلفون: Holtz, Alexander M., VanCoillie, Rachel, Vansickle, Elizabeth A., Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J., Si, Yue, Wentzensen, Ingrid M., Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H., Aldinger, Kimberly A., Dobyns, William B., Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A., O’Heir, Emily, Moody, Shade, Kim, Katherine H., Burton, Barbara K., Yoon, Grace, Campo, Miguel del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L., Gordon, Patricia L., Prokop, Jeremy W., Karaa, Amel, Bupp, Caleb, Raby, Benjamin A.

المصدر: Genetics in Medicine ; volume 24, issue 10, page 2065-2078 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2022.07.005
https://api.elsevier.com/content/article/PII:S1098360022008425?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360022008425?httpAccept=text/plain

المؤلفون: Benítez, Agustín, Riquelme, Raúl, Campo, Miguel del, Araya, Camila, Lara, Hernán E.

المصدر: Frontiers in Endocrinology

مصطلحات موضوعية: Nerve growth factor, Acetylcholine, Norepinephrine, Polycystic ovary syndrome, Follicular development

وصف الملف: application/pdf

Relation: Frontiers in Endocrinology February 2021 Volume 12 Article 636600; https://repositorio.uchile.cl/handle/2250/181996

الاتاحة: https://doi.org/10.3389/fendo.2021.636600
https://repositorio.uchile.cl/handle/2250/181996

المؤلفون: Villar, Javiera, Salazar, Michelle L., Jiménez, José M., Campo, Miguel Del, Manubens, Augusto, Gleisner, María Alejandra, Ávalos, Ignacio, Salazar‐Onfray, Flavio, Salazar, Fabián, Mitchell, Daniel A, Alshahrani, Mohammad Y, Martínez‐Pomares, Luisa, Becker, María Inés

المصدر: European Journal of Immunology ; volume 51, issue 7, page 1715-1731 ; ISSN 0014-2980 1521-4141

الاتاحة: http://dx.doi.org/10.1002/eji.202149225
https://onlinelibrary.wiley.com/doi/pdf/10.1002/eji.202149225
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/eji.202149225

المؤلفون: Xiol, Clara, Vidal, Silvia, Pascual-Alonso, Ainhoa, Blasco, Laura, Brandi, Núria, Pacheco, Paola, Gerotina, Edgar, O’Callaghan, Mar, Pineda, Mercè, Armstrong, Judith, Aguirre, Francisco Javier, Aleu, Montserrat, Alonso, Xènia, Alsius, Mercè, Amorós, Maria Inmaculada, Antiñolo, Guillermo, Aquino, Lourdes, Arellano, Carmen, Arriola, Gema, Arteaga, Rosa, Baena, Neus, Barcos, Montserrat, Belzunces, Nuria, Boronat, Susana, Camacho, Tomás, Campistol, Jaume, Campo, Miguel del, Campo, Andrea, Candau, Ramon, Canós, Ignacio, Carrascosa, María del Carmen, Carratalá-Marco, Francisco, Casano, Jovaní, Castro, Pedro, Cobo, Ana, Colomer, Jaime, Conejo, David, Corrales, Maria José, Cortés, Rocío, Cruz, Gabriel, Csányi, Gábor, Santos, María Teresa de, Toledo, María de, Campo, Miguel Del, Toro, Mireia Del, Domingo, Rosario, Duat, Anna, Duque, Rosario, Esparza, Ana María, Fernández, Rosa, Fons, Maria Carme, Fontalba, Ana, Galán, Enrique, Gallano, Pia, Gamundi, María José, García, Pedro Luis, García, María del Mar, García-Barcina, María, Garcia-Catalan, María Jesús, García-Cazorla, Ángels, García-Miñaur, Sixto, Garcia-Peñas, Juan Jose, García-Silva, María Teresa, Gassio, Rosa, Geán, Esther, Gil, Belén, Gökben, Sarenur, Gonzalez, Luis, Gonzalez, Veronica, Gonzalez, Julieta, González, Gloria, Guillén, Encarna, Guitart, Miriam, Guitet, Montserrat, Gutierrez, Juan Manuel, Gutiérrez, Eva, Herranz, Jose Luís, Iglesias, Gemma, Karacic, Iva, Lahoz, Carlos H., Lao, José Ignacio, Lapunzina, Pablo, Lautre-Ecenarro, María Jesús, Lluch, María Dolores, López, Laura, López-Ariztegui, Asunción, Macaya, Alfons, Marín, Rosario, Marquez, Charles M. Lourenço, Martín, Elena, Martínez, Beatriz, Martínez-Salcedo, Eduardo, Mas, María José, Mateo, Gonzalo, Mendez, Pilar, Jimenez, Amparo Morant, Moreno, Sira, Mulas, Fernando, Narbona, Juan, Nascimento, Andrés, Nieto, Manuel, Nunes, Tania Fabiola, Núñez, Núria, Obón, María, Onsurbe, Ignacio, Ortez, Carlos Ignacio, Orts, Emilio, Martinez, Francisco, Parrilla, Rafael, Pascual, Samuel Ignacio, Patiño, Ana, Pérez-Poyato, Maria, Pérez-Dueñas, Belén, Póo, Pilar, Puche, Eliodoro, Ramos, Feliciano, Raspall, Miquel, Roche, Ana, Roldan, Susana, Rosell, Jordi, Ruiz, Cesar, Ruiz-Falcó, María Luz, Russi, Maria Eugenia, Samarra, Jordi, Antonio, Victoria San, Sanchez, Ivan, Sanmartin, Xavier, Sans, Ana, Santacana, Alfredo, Scholl-Bürgi, Sabine, Serrano, Nuria, Serrano, Mercedes, Martin-Tamayo, Pilar, Tendero, Adrián, Torrents, Jaime, Tortosa, Diego, Triviño, Emma, Troncoso, Ledia, Turón, Eulàlia, Vázquez, Pilar, Vázquez, Carlos, Velázquez, Ramón, Ventura, Clara, Verdú, Alfonso, Vernet, Anna, Vila, M. Tomás, Villar, Cristina

وصف الملف: application/pdf

Relation: https://doi.org/10.1038/s41598-019-48385-w; Scientific Reports. 2019; 19;9 (1):11983; https://uvadoc.uva.es/handle/10324/64713; Scientific Reports

الاتاحة: https://uvadoc.uva.es/handle/10324/64713
https://doi.org/10.1038/s41598-019-48385-w

المؤلفون: Montero Sepúlveda, María Cecilia, Campo, Miguel del, Bono Merino, María Rosa, Simon Zegers, María Valeska, Guerrero Peralta, Julia, Lagos Wilson, Néstor

المصدر: Marine Drugs

مصطلحات موضوعية: Neosaxitoxin, Inflammation, Nav channels, Macrophages

وصف الملف: application/pdf

Relation: Mar. Drugs 2020, 18, 283; https://repositorio.uchile.cl/handle/2250/176945

الاتاحة: https://doi.org/10.3390/md18060283
https://repositorio.uchile.cl/handle/2250/176945

المؤلفون: Riquelme, Gricel, Sepúlveda, Joaquín M., Ghumgham, Zaki Al, Campo, Miguel del, Montero, Cecilia, Lagos, Néstor

المصدر: Toxicon

مصطلحات موضوعية: PSP toxins, Neosaxitoxin, Bucked shins, Pain management, Long-lasting pain blocker

وصف الملف: application/pdf

Relation: Toxicon 141 (2018) 15e17; https://repositorio.uchile.cl/handle/2250/150278

الاتاحة: https://doi.org/10.1016/j.toxicon.2017.11.004
https://repositorio.uchile.cl/handle/2250/150278

المؤلفون: Palacios, Miriam, Tampe, Ricardo, Campo, Miguel del, Zhong, Ta-Ying, López, Mercedes N., Salazar Onfray, Flavio, Becker, María Inés

المصدر: European Journal of Medicinal Chemistry

مصطلحات موضوعية: Mollusk hemocyanins, Carrier proteins, Sulfo-SMCC crosslinker, GD2 mimotope, Immunogenicity, Melanoma, Antitumor activity

وصف الملف: application/pdf

Relation: European Journal of Medicinal Chemistry 150 (2018) 74-86; https://repositorio.uchile.cl/handle/2250/151509

الاتاحة: https://doi.org/10.1016/j.ejmech.2018.02.082
https://repositorio.uchile.cl/handle/2250/151509

المؤلفون: Hinzpeter, Jaime, Zamorano, Alvaro, Barahona, Maximiliano, Möller, Germán, Espinoza, Joaquín, Campo, Miguel del, Piron, Robin, Sepúlveda, Joaquín M., Bustamante, Tamara, Lagos, Nestor

المساهمون: Kharwar, Rajesh Kumar

المصدر: International Physiology Journal ; issue 2, page 1-6 ; ISSN 2578-8590

الاتاحة: http://dx.doi.org/10.14302/issn.2578-8590.ipj-18-2018
https://openaccesspub.org/ipj/article/738

المؤلفون: Hinzpeter, Jaime, Barrientos, Cristián, Barahona, Maximiliano, Zamorano, Álvaro, Palet, Miguel, Wulf, Rodrigo, Sepúlveda, Joaquín M., Bustamante, Tamara, Piron, Robin, Campo, Miguel del, Lagos, Nestor

المساهمون: Hassan Ibrahim, Amal Ibrahim

المصدر: International Physiology Journal ; issue 1, page 15-25 ; ISSN 2578-8590

الاتاحة: http://dx.doi.org/10.14302/issn.2578-8590.ipj-18-1952
https://openaccesspub.org/ipj/article/715

المؤلفون: González, Andrea, Nova, Esteban, Campo, Miguel del, Manubens, Augusto, Ioannes, Alfredo de, Ferreira Parker, Jorge, Becker, María Inés

المصدر: BBA Proteins and Proteomics

مصطلحات موضوعية: Concholepas hemocyanin (CCH), Megathura crenulata hemocyanin (KLH), Oxygen binding, Cooperativity, Affinity, Polarography

وصف الملف: application/pdf

Relation: BBA Proteins and Proteomics 1865 (2017) 1746–1757; http://dx.doi.org/10.1016/j.bbapap.2017.08.017; https://repositorio.uchile.cl/handle/2250/148826

الاتاحة: https://doi.org/10.1016/j.bbapap.2017.08.017
https://repositorio.uchile.cl/handle/2250/148826

المؤلفون: Holtz, Alexander M, VanCoillie, Rachel, Vansickle, Elizabeth A, Carere, Deanna Alexis, Withrow, Kara, Torti, Erin, Juusola, Jane, Millan, Francisca, Person, Richard, Guillen Sacoto, Maria J, Si, Yue, Wentzensen, Ingrid M, Pugh, Jada, Vasileiou, Georgia, Rieger, Melissa, Reis, André, Argilli, Emanuela, Sherr, Elliott H, Aldinger, Kimberly A, Dobyns, William B, Brunet, Theresa, Hoefele, Julia, Wagner, Matias, Haber, Benjamin, Kotzaeridou, Urania, Keren, Boris, Heron, Delphine, Mignot, Cyril, Heide, Solveig, Courtin, Thomas, Buratti, Julien, Murugasen, Serini, Donald, Kirsten A, O'Heir, Emily, Moody, Shade, Kim, Katherine H, Burton, Barbara K, Yoon, Grace, Campo, Miguel Del, Masser-Frye, Diane, Kozenko, Mariya, Parkinson, Christina, Sell, Susan L, Gordon, Patricia L, Prokop, Jeremy W, Karaa, Amel, Bupp, Caleb, Raby, Benjamin A

المصدر: Journal Articles

مصطلحات موضوعية: MYH10, non-muscle myosin, primary cilia, hedgehog, neurodevelopmental disability, hypertelorism, Actins, Cilia, Hedgehog Proteins, Humans, Myosin Heavy Chains, Neurodevelopmental Disorders, Nonmuscle Myosin Type IIB, Diseases, Medical Genetics, Medical Sciences, Medical Specialties, Medicine and Health Sciences, Nervous System Diseases, Neurology, Neurosciences, Pediatrics

وصف الملف: application/pdf

Relation: https://digitalcommons.library.tmc.edu/uthmed_docs/2261; https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/3222/viewcontent/nihms_1948410.pdf

الاتاحة: https://digitalcommons.library.tmc.edu/uthmed_docs/2261
https://digitalcommons.library.tmc.edu/context/uthmed_docs/article/3222/viewcontent/nihms_1948410.pdf

المؤلفون: Campo, Miguel del, Sociedad Económica de Amigos del País. Valladolid, Economic Society of Friends of the Country. Valladolid

الاتاحة: http://data.europeana.eu/aggregation/europeana/355/https___hispana_mcu_es_lod_oai_riunet_upv_es_10251____20490_ent0

المؤلفون: Hinzpeter, Jaime, Barahona, Maximiliano, Aliste, Julián, Barrientos, Cristian, Zamorano, Alvaro, Palet, Miguel, Catalan, Jaime, Campo, Miguel del, Lagos, Néstor

المصدر: Journal of Knee Surgery (Thieme Medical Publishing Inc.); Mar2023, Vol. 36 Issue 4, p389-396, 8p

المؤلفون: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez-Lara, Pedro A, Campo, Miguel Del, Jones, Marilyn C, Abdul-Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary-Alice, Allain, Dawn C, Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K, Knight Johnson, Amy E, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell-Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J

المصدر: American journal of medical genetics. Part A, vol 185, iss 6

مصطلحات موضوعية: Steiner syndrome, Clinical Sciences, Hypertrichosis, Black People, White People, Rare Diseases, Loss of Function Mutation, Clinical Research, Intellectual Disability, Wiedemann‐, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, syndromic intellectual disability, Aetiology, syndromic short stature, Growth Disorders, Genetic Association Studies, Retrospective Studies, Pediatric, Wiedemann-Steiner syndrome, Histone-Lysine N-Methyltransferase, KMT2A, Failure to Thrive, Brain Disorders, Congenital Structural Anomalies, MLL1, Constipation, Myeloid-Lymphoid Leukemia Protein

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______325::4b64feedd2f1cc2a4ed41529d8be5d4e
https://escholarship.org/uc/item/0xp4224d

المؤلفون: Hinzpeter, Jaime, Barahona, Maximiliano, Aliste, Julián, Barrientos, Cristian, Zamorano, Alvaro, Palet, Miguel, Catalan, Jaime, Campo, Miguel del, Lagos, Néstor

المصدر: The Journal of Knee Surgery ; volume 36, issue 04, page 389-396 ; ISSN 1538-8506 1938-2480

الاتاحة: http://dx.doi.org/10.1055/s-0041-1735312
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-1735312.pdf

المؤلفون: Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Gil-Rodríguez, María Concepción, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, P.S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Campo, Miguel Del, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Consortium, Care Rare Canada, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, P., Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.

المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales

المصدر: Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)

Relation: boreal:164111; http://hdl.handle.net/2078.1/164111; info:pmid/24403048; urn:ISSN:0964-6906; urn:EISSN:1460-2083

الاتاحة: http://hdl.handle.net/2078.1/164111
https://doi.org/10.1093/hmg/ddu002