학술논문
'학술논문'
에서 검색결과 49건 | 목록
1~10
Academic Journal
Alstrup, Morten; Cesca, Fabrizia; Krawczun-Rygmaczewska, Alicja; López-Menéndez, Celia; Pose-Utrilla, Julia; Castberg, Filip Christian; Bjerager, Mia Ortved; Finnila, Candice; Kruer, Michael C.; Bakhtiari, Somayeh; Padilla-Lopez, Sergio; Manwaring, Linda; Keren, Boris; Afenjar, Alexandra; Galatolo, Daniele; Scalise, Roberta; Santorelli, Fillippo M.; Shillington, Amelle; Vezain, Myriam; Martinovic, Jelena; Stevens, Cathy; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Thiffault, Isabelle; Pastinen, Tomi; Baranano, Kristin; Lee, Angela; Granadillo, Jorge; Glassford, Megan R.; Keegan, Catherine E.; Matthews, Nicole; Saugier-Veber, Pascale; Iglesias, Teresa; Østergaard, Elsebet
In Genetics in Medicine November 2024 26(11)
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1144-1149
Periodical
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-6, 6p
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics. 32(9):1191-1191
Book
In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Edition: Sixth Edition. 2020:633-641
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse
Academic Journal
Helbig, Katherine L; Lauerer, Robert J; Bahr, Jacqueline C; Souza, Ivana A; Myers, Candace T; Uysal, Betül; Schwarz, Niklas; Gandini, Maria A; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina R; Soerensen, Kristina P; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael C; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C; Klee, Eric W; Tillema, Jan-Mendelt; Payne, Eric T; Cousin, Margot A; Kruisselbrink, Teresa M; Wick, Myra J; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E; Katsanis, Nicholas; Genomics, Task Force for Neonatal; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; McDonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John; Corbett, Mark A; MacLennan, Alastair H; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D
American Journal of Human Genetics. 103(5)
Academic Journal
Almousa, Hashem; Lewis, Sara A.; Bakhtiari, Somayeh; Nordlie, Sandra Hinz; Pagnozzi, Alex; Magee, Helen; Efthymiou, Stephanie; Heim, Jennifer A.; Cornejo, Patricia; Zaki, Maha S.; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Neilson, Derek E.; Vemuri, Anusha; Jin, Sheng Chih; Yang, Xiao-Ru; Heidari, Abolfazl; van Gassen, Koen; Trimouille, Aurelien; Thauvin-Robinet, Christel; Liu, James; Bruel, Ange-Line; Tomoum, Hoda; Shata, Mennatallah O.; Hashem, Mais O.; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Yesil, Goezde; Lingappa, Lokesh; Baruah, Debangana; Ebrahimzadeh, Farnoosh; Van-Gils, Julien; Faivre, Laurence; Zamani, Mina; Galehdari, Hamid; Sadeghian, Saeid; Shariati, Gholamreza; Mohammad, Rahema; van der Smagt, Jasper; Qari, Alya; Vincent, John B.; Innes, A. Micheil; Dursun, Ali; Ozgul, R. Koksal; Akar, Halil Tuna; Bilguvar, Kaya; Mignot, Cyril; Keren, Boris; Raveli, Claudia; Burglen, Lydie; Afenjar, Alexandra; Kaat, Laura Donker; van Slegtenhorst, Marjon; Alkuraya, Fowzan; Houlden, Henry; Padilla-Lopez, Sergio; Maroofian, Reza; Sacher, Michael; Kruer, Michael C.
Ah Mew, Nicholas; Akamatsu, Wado; Akman, Hasan Orhan; AlHakeem, Afnan; Aoyama, Koji; Artuch, Rafael; Beck, Michael; Bennett, C. Frank; Berry, Gerard T.; Bissell, D. Montgomery; Canine, Brenda; Caskey, C. Thomas; Casy, Widler; Chinnery, Patrick F.; Chuang, David T.; Cook, Emily K.; Cox, Rody P.; De Jager, Philip L.; Demirbas, Didem; Desnick, Robert J.; DiMauro, Salvatore; Eichler, Florian S.; Elger, Bernice; Emmanuele, Valentina; Evans, Patricia; Fogel, Brent L.; García-Cazorla, Àngels; Gellera, Cinzia; Golla, Sailaja; Goodspeed, Kimberly; Gospe, Sidney M., Jr.; Gray, Steven J.; Gropman, Andrea L.; Gu, Yian; Guerrini, Renzo; Gunn, Teresa M.; Hadziahmetovic, Una; Haffner, Darrah; Hagerman, R.J.; Harel, Tamar; Head, Elizabeth; Horvath, Rita; Hosoi, Yasushi; Hou, Ying-Chen Claire; Hsiao, Jane; Ishiura, Hiroyuki; Jack, Clifford R., Jr.; Jakkamsetti, Vikram; †<%2Fce%3Asup>%2C+William+G%2E">Johnson†<%2Fce%3Asup>%2C+John+H%2E">Menkes†<%2Fce%3Asup>%2C+Hugo+W%2E">MoserRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Edition: Sixth Edition. 2020:xvii-xx
Periodical
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; PIARD, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joël; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-1, 1p
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[AR] Padilla‐Lopez, Sergio
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