학술논문
'학술논문'
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1~10
Academic Journal
Enacán, Rosa E.; Miñana, Mariana Nuñez; Fernandez, Luis; Valle, Maria Gabriela; Salerno, Mercedes; Fraga, Claudia I.; Santos-Simarro, Fernando; Prieto, Laura; Lapunzina, Pablo; Specola, Norma; Chiesa, Ana Elena
Journal of Inborn Errors of Metabolism and Screening. January 2019 7
Academic Journal
Angius, Andrea; Baker, Janice A.; Bedoukian, Emma; Bhambhani, Vikas; Bodamer, Olaf; O’Brien, Alan; Clayton-Smith, Jill; Crisponi, Laura; Cueto González, Anna María; the DDD study; Devriendt, Koenraad; Garrido, Elena Dominguez; Ehmke, Nadja; van Eerde, Albertien; van den Elzen, Annette P.M.; Faivre, Laurence; Fisher, Laura; Flores-Daboub, Josue A.; Foster, Alison; Friedman, Jennifer; Gabau, Elisabeth; Galazzi, Elena; García-Miñaúr, Sixto; Garavelli, Livia; Gardeitchik, Thatjana; Gerkes, Erica H.; van Gils, Julien; Giltay, Jacques C.; Garcia, Aixa Gonzalez; Heimdal, Ketil Riddervold; Horn, Denise; Houge, Gunnar; Hufnagel, Sophia B.; Ilencikova, Denisa; Julia, Sophie; Kant, Sarina G.; Kinning, Esther; Klee, Eric W.; Kois, Chelsea; Kovačević, Maja; Lachmeijer, A.M.A. (Guus); Lanpher, Brendan; Lebrun, Marine; Leon, Eyby; Lichty, Angie Ward; Lin, Ruth; Llano-Rivas, Isabel; Lynch, Sally Ann; Maas, Saskia M.; Maitz, Silvia B.; McKee, Shane; Melis, Daniela; Merati, Elisabetta; Merla, Giuseppe; Newbury-Ecob, Ruth; Nizon, Mathilde; Park, Soo-Mi; Patterson, Jennifer; Petit, Florence; Peeters, Hilde; Persani, Luca; Persico, Ivana; Pes, Valentina; Pollazzon, Marzia; Potjer, Thomas; Potocki, Lorraine; Pottinger, Carrie; Prasad, Chitra; Prijoles, Eloise J.; Ragge, Nicola K.; Rake, Jan Peter; van Ravenswaaij-Arts, Conny M.A.; Rea, Gillian; Ruivenkamp, Claudia; Rutz, Audrey; Saitta, Sulagna C.; Russo, Rossana Sanchez; Santen, Gijs W.E.; Schaefer, Elise; Shashi, Vandana; Schultz-Rogers, Laura; Sluga, Andrea; Sotgiu, Stefano; Steichen-Gersdorf, Elisabeth; Sullivan, Jennifer A.; Sun, Yu; Suri, Mohnish; Tartaglia, Marco; Tedder, Matt; Terhal, Paulien; Tully, Ian; Verbeek, Nienke; Wenzel, Maren; White, Susan M.; Xiao, Bing; Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; McConkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Hurst, Anna C.E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabíola P.; Parenti, Ilaria; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Mariëlle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Denommé-Pichon, Anne-Sophie; Collins, Stephan C.; Bruel, Ange-Line; Mikhaleva, Anna; Wagner, Christel; Vancollie, Valerie E.; Thomas, Quentin; Chevarin, Martin; Weber, Mathys; Prada, Carlos E.; Overs, Alexis; Palomares-Bralo, María; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Busa, Tiffany; Legius, Eric; Bacino, Carlos A.; Rosenfeld, Jill A.; Le Guyader, Gwenaël; Egloff, Matthieu; Le Guillou, Xavier; Mencarelli, Maria Antonietta; Renieri, Alessandra; Grosso, Salvatore; Levy, Jonathan; Dozières, Blandine; Desguerre, Isabelle; Vitobello, Antonio; Duffourd, Yannis; Lelliott, Christopher J.; Thauvin-Robinet, Christel; Philippe, Christophe; Faivre, Laurence; Yalcin, Binnaz
In Genetics in Medicine July 2023 25(7)
Academic Journal
Santos-Simarro, Fernando; Pacio, Marta; Cueto-González, Anna María; Mansilla, Elena; Valenzuela-Palafoll, María Irene; López-Grondona, Fermina; Lledín, María Dolores; Schuffelmann, Cristina; del Pozo, Ángela; Solis, Mario; Vallcorba, Patricia; Lapunzina, Pablo; Menéndez Suso, Juan José; Siccha, Sofia M.; Montejo, Juan Manuel; Mena, Rocío; Jiménez-Rodríguez, Carmen; García-Miñaúr, Sixto; Palomares-Bralo, María
In European Journal of Medical Genetics November 2021 64(11)
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
Academic Journal
Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E.; Atallah, Isis; Bar-Yosef, Omer; Bilan, Frédéric; Bjorgo, Kathrine; Blanc, Xavier; Van Bogaert, Patrick; Bolkier, Yoav; Burrage, Lindsay C.; Christ, Björn U.; Granadillo, Jorge L.; Dickson, Patricia; Donald, Kirsten A.; Dubourg, Christèle; Eliyahu, Aviva; Emrick, Lisa; Engleman, Kendra; Gonfiantini, Michaela Veronika; Good, Jean-Marc; Kalser, Judith; Kloeckner, Chiara; Lachmeijer, Guus; Macchiaiolo, Marina; Nicita, Francesco; Odent, Sylvie; O’Heir, Emily; Ortiz-Gonzalez, Xilma; Pacio-Miguez, Marta; Palomares-Bralo, María; Pena, Loren; Platzer, Konrad; Quinodoz, Mathieu; Ranza, Emmanuelle; Rosenfeld, Jill A.; Roulet-Perez, Eliane; Santani, Avni; Santos-Simarro, Fernando; Pode-Shakked, Ben; Skraban, Cara; Slaugh, Rachel; Superti-Furga, Andrea; Thiffault, Isabelle; van Jaabrsveld, Richard H.; Vincent, Marie; Wang, Hong-Gang; Zacher, Pia; Alejandro, Mercedes E.; Azamian, Mahshid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Chao, Hsiao-Tuan; Clark, Gary D.; Craigen, William J.; Dai, Hongzheng; Dhar, Shweta U.; Emrick, Lisa T.; Goldman, Alica M.; Hanchard, Neil A.; Jamal, Fariha; Karaviti, Lefkothea; Lalani, Seema R.; Lee, Brendan H.; Lewis, Richard A.; Marom, Ronit; Moretti, Paolo M.; Murdock, David R.; Nicholas, Sarah K.; Orengo, James P.; Posey, Jennifer E.; Potocki, Lorraine; Samson, Susan L.; Scott, Daryl A.; Tran, Alyssa A.; Vogel, Tiphanie P.; Wangler, Michael F.; Yamamoto, Shinya; Eng, Christine M.; Liu, Pengfei; Ward, Patricia A.; Behrens, Edward; Deardorff, Matthew; Falk, Marni; Hassey, Kelly; Sullivan, Kathleen; Vanderver, Adeline; Goldstein, David B.; Cope, Heidi; McConkie-Rosell, Allyn; Schoch, Kelly; Shashi, Vandana; Smith, Edward C.; Sullivan, Jennifer A.; Tan, Queenie K.-G.; Walley, Nicole M.; Agrawal, Pankaj B.; Beggs, Alan H.; Berry, Gerard T.; Briere, Lauren C.; Cobban, Laurel A.; Coggins, Matthew; Cooper, Cynthia M.; Fieg, Elizabeth L.; High, Frances; Holm, Ingrid A.; Korrick, Susan; Krier, Joel B.; Lincoln, Sharyn A.; Loscalzo, Joseph; Maas, Richard L.; MacRae, Calum A.; Pallais, J. Carl; Rao, Deepak A.; Silverman, Edwin K.; Stoler, Joan M.; Sweetser, David A.; Walker, Melissa; Walsh, Chris A.; Esteves, Cecilia; Kelley, Emily G.; Kohane, Isaac S.; LeBlanc, Kimberly; McCray, Alexa T.; Nagy, Anna; Dasari, Surendra; Lanpher, Brendan C.; Lanza, Ian R.; Morava, Eva; Oglesbee, Devin; Bademci, Guney; Barbouth, Deborah; Bivona, Stephanie; Carrasquillo, Olveen; Chang, Ta Chen Peter; Forghani, Irman; Grajewski, Alana; Isasi, Rosario; Lam, Byron; Levitt, Roy; Liu, Xue Zhong; McCauley, Jacob; Sacco, Ralph; Saporta, Mario; Schaechter, Judy; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Zuchner, Stephan; Colley, Heather A.; Dayal, Jyoti G.; Eckstein, David J.; Findley, Laurie C.; Krasnewich, Donna M.; Mamounas, Laura A.; Manolio, Teri A.; Mulvihill, John J.; LaMoure, Grace L.; Goldrich, Madison P.; Urv, Tiina K.; Doss, Argenia L.; Acosta, Maria T.; Bonnenmann, Carsten; D’Souza, Precilla; Draper, David D.; Ferreira, Carlos; Godfrey, Rena A.; Groden, Catherine A.; Macnamara, Ellen F.; Maduro, Valerie V.; Markello, Thomas C.; Nath, Avi; Novacic, Donna; Pusey, Barbara N.; Toro, Camilo; Wahl, Colleen E.; Baker, Eva; Burke, Elizabeth A.; Adams, David R.; Gahl, William A.; Malicdan, May Christine V.; Tifft, Cynthia J.; Wolfe, Lynne A.; Yang, John; Power, Bradley; Gochuico, Bernadette; Huryn, Laryssa; Latham, Lea; Davis, Joie; Mosbrook-Davis, Deborah; Rossignol, Francis; Ben Solomon; MacDowall, John; Thurm, Audrey; Zein, Wadih; Yousef, Muhammad; Adam, Margaret; Amendola, Laura; Bamshad, Michael; Beck, Anita; Bennett, Jimmy; Berg-Rood, Beverly; Blue, Elizabeth; Boyd, Brenna; Byers, Peter; Chanprasert, Sirisak; Cunningham, Michael; Dipple, Katrina; Doherty, Daniel; Earl, Dawn; Glass, Ian; Golden-Grant, Katie; Hahn, Sihoun; Hing, Anne; Hisama, Fuki M.; Horike-Pyne, Martha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Lam, Christina; Maravilla, Kenneth; Mefford, Heather; Merritt, J. Lawrence; Mirzaa, Ghayda; Nickerson, Deborah; Raskind, Wendy; Rosenwasser, Natalie; Scott, C. Ron; Sun, Angela; Sybert, Virginia; Wallace, Stephanie; Wener, Mark; Wenger, Tara; Ashley, Euan A.; Bejerano, Gill; Bernstein, Jonathan A.; Bonner, Devon; Coakley, Terra R.; Fernandez, Liliana; Fisher, Paul G.; Fresard, Laure; Hom, Jason; Huang, Yong; Kohler, Jennefer N.; Kravets, Elijah; Majcherska, Marta M.; Martin, Beth A.; Marwaha, Shruti; McCormack, Colleen E.; Raja, Archana N.; Reuter, Chloe M.; Ruzhnikov, Maura; Sampson, Jacinda B.; Smith, Kevin S.; Sutton, Shirley; Tabor, Holly K.; Tucker, Brianna M.; Wheeler, Matthew T.; Zastrow, Diane B.; Zhao, Chunli; Byrd, William E.; Crouse, Andrew B.; Might, Matthew; Nakano-Okuno, Mariko; Whitlock, Jordan; Brown, Gabrielle; Butte, Manish J.; Dell’Angelica, Esteban C.; Dorrani, Naghmeh; Douine, Emilie D.; Fogel, Brent L.; Gutierrez, Irma; Huang, Alden; Krakow, Deborah; Lee, Hane; Loo, Sandra K.; Mak, Bryan C.; Martin, Martin G.; Martínez-Agosto, Julian A.; McGee, Elisabeth; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Renteria, Genecee; Signer, Rebecca H.; Sinsheimer, Janet S.; Wan, Jijun; Wang, Lee-kai; Perry, Katherine Wesseling; Woods, Jeremy D.; Alvey, Justin; Andrews, Ashley; Bale, Jim; Bohnsack, John; Botto, Lorenzo; Carey, John; Pace, Laura; Longo, Nicola; Marth, Gabor; Moretti, Paolo; Quinlan, Aaron; Velinder, Matt; Viskochil, Dave; Bayrak-Toydemir, Pinar; Mao, Rong; Westerfield, Monte; Bican, Anna; Brokamp, Elly; Duncan, Laura; Hamid, Rizwan; Kennedy, Jennifer; Kozuira, Mary; Newman, John H.; PhillipsIII, John A.; Rives, Lynette; Robertson, Amy K.; Solem, Emily; Cogan, Joy D.; Cole, F. Sessions; Hayes, Nichole; Kiley, Dana; Sisco, Kathy; Wambach, Jennifer; Wegner, Daniel; Baldridge, Dustin; Pak, Stephen; Schedl, Timothy; Shin, Jimann; Solnica-Krezel, Lilianna; Rush, Eric; Pitt, Geoffrey S.; Au, Ping Yee Billie
In Genetics in Medicine October 2021 23(10):1922-1932
Academic Journal
Illescas, Tamara; Mansilla, Elena; Herrero, Beatriz; Rodríguez, Roberto; López, Francisco; Aza-Carmona, Miriam; Regojo, Rita María; Santos-Simarro, Fernando; Heath, Karen E; Bartha, José Luis; Antolín, Eugenia
In European Journal of Obstetrics & Gynecology and Reproductive Biology July 2020 250:209-215
Academic Journal
Maria del Mar, O'Callaghan; Garcia-Cazorla, Àngels; del Carmen Serrano Munuera, Maria; García, Silvia Cuso; Troncoso, Monica; Fariña, Guillermo; García Peñas, Juan José; Fournier, Belen Gil; León, Soraya Ramiro; Guitart, Miriam; Baena, Neus; de Nanclares, Guiomar Perez; Oci, Intzane Ocio; Gutiérrez-Delicado, Eva; Abarrategui, Belén; Barroso, Eva; Santos-Simarro, Fernando; Lapunzina, Pablo; García, Francisco J.; Acedo, Juan M.; García, Asunción; Martinez, Miguel A.; Martínez-Bermejo, Antonio; Vidal, S.; Brandi, N.; Pacheco, P.; Maynou, J.; Fernandez, G.; Xiol, C.; Pascual-Alonso, A.; Pineda, M.; Armstrong, J.
In European Journal of Paediatric Neurology July 2019 23(4):609-620
Academic Journal
Duchatelet, Sabine; Boyden, Lynn M.; Ishida-Yamamoto, Akemi; Zhou, Jing; Guibbal, Laure; Hu, Ronghua; Lim, Young H.; Bole-Feysot, Christine; Nitschké, Patrick; Santos-Simarro, Fernando; de Lucas, Raul; Milstone, Leonard M.; Gildenstern, Vanessa; Helfrich, Yolanda R.; Attardi, Laura D.; Lifton, Richard P.; Choate, Keith A.; Hovnanian, Alain
In Journal of Investigative Dermatology February 2019 139(2):380-390
Academic Journal
Fernández, Luis; Tenorio, Jair; Polo-Vaquero, Coral; Vallespín, Elena; Palomares-Bralo, María; García-Miñaúr, Sixto; Santos-Simarro, Fernando; Arias, Pedro; Carnicer, Hernán; Giannivelli, Silvina; Medina, Juan; Pérez-Piaya, Rosa; Solís, Jorge; Rodríguez, Mónica; Villagrá, Alexandra; Rodríguez, Laura; Nevado, Julián; Martínez-Glez, Víctor; Heath, Karen E.; Lapunzina, Pablo
In Revista Española de Cardiología (English Edition) July 2018 71(7):545-552
Academic Journal
Torres-Juan, Laura; Rico, Yolanda; Fortuny, Elena; Pons, Jaume; Ramos, Rafael; Santos-Simarro, Fernando; Asensio, Víctor; Martinez, Iciar; Heine-Suñer, Damian
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[AR] Santos-Simarro, Fernando
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