학술논문
'학술논문'
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1~10
Academic Journal
Rodriguez-Palmero, A; Boerrigter, MM; Gomez-Andres, D; Aldinger, KA; Marcos-Alcalde, I; Popp, B; Everman, DB; Lovgren, AK; Arpin, S; Bahrambeigi, V; Beunders, G; Bisgaard, AM; Bjerregaard, VA; Bruel, AL; Challman, TD; Cogne, B; Coubes, C; de Man, SA; Denomme-Pichon, AS; Dye, TJ; Elmslie, F; Feuk, L; Garcia-Minaur, S; Gertler, T; Giorgio, E; Gruchy, N; Haack, TB; Haldeman-Englert, CR; Haukanes, BI; Hoyer, J; Hurst, ACE; Isidor, B; Soller, MJ; Kushary, S; Kvarnung, M; Landau, YE; Leppig, KA; Lindstrand, A; Kleinendorst, L; MacKenzie, A; Mandrile, G; Mendelsohn, BA; Moghadasi, S; Morton, JE; Moutton, S; Muuller, AJ; O'Leary, M; Pacio-Miguez, M; Palomares-Bralo, M; Parikh, S; Pfundt, R; Pode-Shakked, B; Rauch, A; Repnikova, E; Revah-Politi, A; Ross, MJ; Ruivenkamp, CAL; Sarrazin, E; Savatt, JM; Schluter, A; Schonewolf-Greulich, B; Shad, Z; Shaw-Smith, C; Shieh, JT; Shohat, M; Spranger, S; Thiese, H; Mau-Them, FT; van Bon, B; van de Burgt, I; van de Laar, IMBH; van Drie, E; van Haelst, MM; van Ravenswaaij-Arts, CM; Verdura, E; Vitobello, A; Waldmuller, S; Whiting, S; Zweier, C; Prada, CE; de Vries, BBA; Dobyns, WB; Reiter, SF; Gomez-Puertas, P; Pujol, A; Tumer, Z
Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899
Academic Journal
Aerden, Mio; Denommé-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gérard, Bénédicte; Mazel, Benoît; Philippe, Christophe; Pinson, Lucile; Prouteau, Clément; Putoux, Audrey; Tran Mau-Them, Frédéric; Viora-Dupont, Éléonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amélie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortüm, Fanny; Lisfeld, Jasmin; Debray, François-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; López-González, Vanesa; Kibaek, Maria; Tørring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Õunap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
European Journal of Human Genetics. 31(4):461-468
Academic Journal
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander JM; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert BA; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance TRM; Stevens, Servi JC; Vermeulen, Jeroen R; van Harssel, Jeske VT; Bosch, Danielle GM; van Gassen, Koen LI; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata JM; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka ELM; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna
American Journal of Human Genetics. 108(6)
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
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)
Academic Journal
Julián Nevado; Sixto García-Miñaúr; María Palomares-Bralo; Elena Vallespín; Encarna Guillén-Navarro; Jordi Rosell; Cristina Bel-Fenellós; María Ángeles Mori; Montserrat Milá; Miguel del Campo; Pilar Barrúz; Fernando Santos-Simarro; Gabriela Obregón; Carmen Orellana; Harry Pachajoa; Jair Antonio Tenorio; Enrique Galán; Juan C. Cigudosa; Angélica Moresco; César Saleme; Silvia Castillo; Elisabeth Gabau; Luis Pérez-Jurado; Ana Barcia; Maria Soledad Martín; Elena Mansilla; Isabel Vallcorba; Pedro García-Murillo; Franco Cammarata-Scalisi; Natálya Gonçalves Pereira; Raquel Blanco-Lago; Mercedes Serrano; Juan Dario Ortigoza-Escobar; Blanca Gener; Verónica Adriana Seidel; Pilar Tirado; Pablo Lapunzina; Spanish PMS Working Group; Mena Rocío; Lleguer Roser; Fernández-Montaño Victoria; Martín Rubén; Fernández Blanca; García-Santiago Fé; Gómez del Pozo Victoria; Peña Carolina; Alhambra Norma; García Carlos; Rodríguez Juan Ramón; Martínez-Bermejo Antonio; Málaga Ignacio; Martínez-Monseny Antonio Federico; Armstrong Judith; Anticona Jennifer; Hernando-Davalillo Cristina; San Martí Adrián Alcalá; Martorell Loreto; Yubero Delia; Nunes Tania; Callaghan Mar O´; Alonso Xenia; Ramos Federico; López Jesús Casas; López-González Vanesa; M Juliana Ballesta; Armengol Lluís; González-Meneses Antonio; Borrego Salud; Roselló Mónica; Suela Javier; Pérez-Granero Ángeles; Rodríguez-Revenga Laia
Frontiers in Genetics, Vol 13 (2022)
Academic Journal
van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M.A.M.; Alders, Mariëlle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.
In Human Genetics and Genomics Advances 18 July 2024 5(3)
Academic Journal
Michael A. Levy; Haley McConkey; Jennifer Kerkhof; Mouna Barat-Houari; Sara Bargiacchi; Elisa Biamino; María Palomares Bralo; Gerarda Cappuccio; Andrea Ciolfi; Angus Clarke; Barbara R. DuPont; Mariet W. Elting; Laurence Faivre; Timothy Fee; Robin S. Fletcher; Florian Cherik; Aidin Foroutan; Michael J. Friez; Cristina Gervasini; Sadegheh Haghshenas; Benjamin A. Hilton; Zandra Jenkins; Simranpreet Kaur; Suzanne Lewis; Raymond J. Louie; Silvia Maitz; Donatella Milani; Angela T. Morgan; Renske Oegema; Elsebet Østergaard; Nathalie Ruiz Pallares; Maria Piccione; Simone Pizzi; Astrid S. Plomp; Cathryn Poulton; Jack Reilly; Raissa Relator; Rocio Rius; Stephen Robertson; Kathleen Rooney; Justine Rousseau; Gijs W.E. Santen; Fernando Santos-Simarro; Josephine Schijns; Gabriella Maria Squeo; Miya St John; Christel Thauvin-Robinet; Giovanna Traficante; Pleuntje J. van der Sluijs; Samantha A. Vergano; Niels Vos; Kellie K. Walden; Dimitar Azmanov; Tugce Balci; Siddharth Banka; Jozef Gecz; Peter Henneman; Jennifer A. Lee; Marcel M.A.M. Mannens; Tony Roscioli; Victoria Siu; David J. Amor; Gareth Baynam; Eric G. Bend; Kym Boycott; Nicola Brunetti-Pierri; Philippe M. Campeau; John Christodoulou; David Dyment; Natacha Esber; Jill A. Fahrner; Mark D. Fleming; David Genevieve; Kristin D. Kerrnohan; Alisdair McNeill; Leonie A. Menke; Giuseppe Merla; Paolo Prontera; Cheryl Rockman-Greenberg; Charles Schwartz; Steven A. Skinner; Roger E. Stevenson; Antonio Vitobello; Marco Tartaglia; Marielle Alders; Matthew L. Tedder; Bekim Sadikovic
HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)
Academic Journal
Palma-Milla, C.; Soengas-Gonda, E.; Sánchez-Pozo, J.; Lazaro-Rodriguez, I.; Quesada-Espinosa, J.F.; Arteche-Lopez, A.; Martin, M.A.; Prat-Planas, A.; Centeno-Pla, M.; Grinberg, D.; Balcells, S.; Rabionet, R.; Palomares-Bralo, M.; Serrano, M.; Urreizti, R.; Martinez-Monseny, A.F.; Casas-Alba, D.; Olival, J.; Pacio-Miguez, M.; Santos-Simarro, F.; Cancho-Candela, R.; Vázquez-López, M.; Seidel, V.
In: Pediatric Neurology . (Pediatric Neurology, June 2024, 155:8-17)
Academic Journal
Boonsawat, P.; Asadollahi, R.; Niedrist, D.; Steindl, K.; Begemann, A.; Zweier, M.; Papik, M.; Siegel, G.; Sabatino, V.; Mocera, M.; Horn, A.H.C.; Rauch, A.; Joset, P.; Bhoj, E.J.; Li, D.; Zackai, E.; Vetro, A.; Barba, C.; Guerrini, R.; Whalen, S.; Keren, B.; Khan, A.; Jing, D.; Palomares Bralo, M.; Rikeros Orozco, E.; Hao, Q.; Schlott Kristiansen, B.; Zheng, B.; Donnelly, D.; Clowes, V.; Sticht, H.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 2024)
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