학술논문
'학술논문'
에서 검색결과 113건 | 목록
10~20
Academic Journal
Fountain, Michael D; Oleson, David S; Rech, Megan E; Segebrecht, Lara; Hunter, Jill V; McCarthy, John M; Lupo, Philip J; Holtgrewe, Manuel; Moran, Rocio; Rosenfeld, Jill A; Isidor, Bertrand; Le Caignec, Cédric; Saenz, Margarita S; Pedersen, Robert C; Morgan, Thomas M; Pfotenhauer, Jean P; Xia, Fan; Bi, Weimin; Kang, Sung-Hae L; Patel, Ankita; Krantz, Ian D; Raible, Sarah E; Smith, Wendy; Cristian, Ingrid; Torti, Erin; Juusola, Jane; Millan, Francisca; Wentzensen, Ingrid M; Person, Richard E; Küry, Sébastien; Bézieau, Stéphane; Uguen, Kévin; Férec, Claude; Munnich, Arnold; van Haelst, Mieke; Lichtenbelt, Klaske D; van Gassen, Koen; Hagelstrom, Tanner; Chawla, Aditi; Perry, Denise L; Taft, Ryan J; Jones, Marilyn; Masser-Frye, Diane; Dyment, David; Venkateswaran, Sunita; Li, Chumei; Escobar, Luis F; Horn, Denise; Spillmann, Rebecca C; Peña, Loren; Wierzba, Jolanta; Strom, Tim M; Parenti, Ilaria; Kaiser, Frank J; Ehmke, Nadja; Schaaf, Christian P
Genetics in Medicine. 21(8)
Periodical
Kundishora, Adam J.; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y.; Gainullin, Vladimir; Timberlake, Andrew T.; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q.; Elsamadicy, Aladine A.; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M.; DiLuna, Michael L.; Mane, Shrikant; Tikhonova, Irina R.; Fu, Po-Ying; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James R.; Furey, Charuta G.; Carter, Bob S.; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L.; Gunel, Murat; Millan, Francisca; Lifton, Richard P.; Torene, Rebecca I.; Jin, Sheng Chih; Kahle, Kristopher T.
Nature Medicine; March 2023, Vol. 29 Issue: 3 p667-678, 12p
Academic Journal
Wirth, Thomas; Garone, Giacomo; Kurian, Manju A.; Piton, Amélie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; Rudolf, Gabrielle; Chelly, Jamel; Marks, Warren; Burglen, Lydie; Demailly, Diane; Coubes, Phillipe; Castro‐Jimenez, Mayte; Joriot, Sylvie; Ghoumid, Jamal; Belin, Jérémie; Faucheux, Jean‐Marc; Blumkin, Lubov; Hull, Mariam
Periodical
Kayumi, Sayaka; Pérez-Jurado, Luis A.; Palomares, María; Rangu, Sneha; Sheppard, Sarah E.; Chung, Wendy K.; Kruer, Michael C.; Kharbanda, Mira; Amor, David J.; McGillivray, George; Cohen, Julie S.; García-Miñaúr, Sixto; van Eyk, Clare L.; Harper, Kelly; Jolly, Lachlan A.; Webber, Dani L.; Barnett, Christopher P.; Santos-Simarro, Fernando; Pacio-Míguez, Marta; Pozo, Angela del; Bakhtiari, Somayeh; Deardorff, Matthew; Dubbs, Holly A.; Izumi, Kosuke; Grand, Katheryn; Gray, Christopher; Mark, Paul R.; Bhoj, Elizabeth J.; Li, Dong; Ortiz-Gonzalez, Xilma R.; Keena, Beth; Zackai, Elaine H.; Goldberg, Ethan M.; Perez de Nanclares, Guiomar; Pereda, Arrate; Llano-Rivas, Isabel; Arroyo, Ignacio; Fernández-Cuesta, María Ángeles; Thauvin-Robinet, Christel; Faivre, Laurence; Garde, Aurore; Mazel, Benoit; Bruel, Ange-Line; Tress, Michael L.; Brilstra, Eva; Fine, Amena Smith; Crompton, Kylie E.; Stegmann, Alexander P.A.; Sinnema, Margje; Stevens, Servi C.J.; Nicolai, Joost; Lesca, Gaetan; Lion-François, Laurence; Haye, Damien; Chatron, Nicolas; Piton, Amelie; Nizon, Mathilde; Cogne, Benjamin; Srivastava, Siddharth; Bassetti, Jennifer; Muss, Candace; Gripp, Karen W.; Procopio, Rebecca A.; Millan, Francisca; Morrow, Michelle M.; Assaf, Melissa; Moreno-De-Luca, Andres; Joss, Shelagh; Hamilton, Mark J.; Bertoli, Marta; Foulds, Nicola; McKee, Shane; MacLennan, Alastair H.; Gecz, Jozef; Corbett, Mark A.
Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2351-2366, 16p
Periodical
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.
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2065-2078, 14p
Academic Journal
Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana; Grody, Wayne W; Strom, Samuel P; Vilain, Eric; Deignan, Joshua; Quintero-Rivera, Fabiola; Kantarci, Sibel; Mullegama, Sureni; Kang, Sung-Hae; Alejandro, Mercedes E; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; Clark, Gary D; Craigen, William J; Dhar, Shweta U; Emrick, Lisa T; Graham, Brett H; Hanchard, Neil A; Jain, Mahim; Lalani, Seema R; Lee, Brendan H; Lewis, Richard A; Mashid, Azamian S; Moretti, Paolo M; Nicholas, Sarah K; Orange, Jordan S; Potocki, Lorraine; Scott, Daryl A; Tran, Alyssa A; Bellen, Hugo J; Yamamoto, Shinya; Eng, Christine M; Muzny, Donna M; Ward, Patricia A; Gropman, Andrea L; Jiang, Yong-hui; Pena, Loren DM; Spillmann, Rebecca C; Sullivan, Jennifer A; Walley, Nicole M; Beggs, Alan H; Briere, Lauren C; Cooper, Cynthia M; Donnell-Fink, Laurel A; Krieg, Elizabeth L; Krier, Joel B; Lincoln, Sharyn A
American Journal of Human Genetics. 100(2)
Periodical
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washington, Camerun; Louie, Ray; Lanpher, Brendan C; Kemppainen, Jennifer L; Innes, Micheil; Kooy, Frank; Meuwissen, Marije; Goldenberg, Alice; Lecoquierre, Francois; Vera, Gabriella; Diderich, Karin E M; Sheidley, Beth; El Achkar, Christelle Moufawad; Park, Meredith; Hamdan, Fadi F; Michaud, Jacques L; Lewis, Ann J; Zweier, Christiane; Reis, André; Wagner, Matias; Weigand, Heike; Journel, Hubert; Keren, Boris; Passemard, Sandrine; Mignot, Cyril; van Gassen, Koen; Brilstra, Eva H; Itzikowitz, Gina; O'Heir, Emily; Allen, Jake; Donald, Kirsten A; Korf, Bruce Richard; Skelton, Tammi; Thompson, Michelle; Robin, Nathaniel H; Rudy, Natasha L; Dobyns, William B; Foss, Kimberly; Zarate, Yuri Alexander; Bosanko, Katherine A; Alembik, Yves; Durand, Benjamin; Tran Mau-them, Frederic; Ranza, Emmanuelle; Blanc, Xavier; Antonarakis, Stylianos E; McWalter, Kirsty; Torti, Erin; Millan, Francisca; Dameron, Amy; Tokita, Mari; Zimmermann, Michael T; Klee, Eric W; Piton, Amelie; Gerard, Benedicte
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 10 p965-975, 11p
Academic Journal
Saffari, Afshin; Lau, Tracy; Tajsharghi, Homa; Karimiani, Ehsan Ghayoor; Kariminejad, Ariana; Efthymiou, Stephanie; Zifarelli, Giovanni; Sultan, Tipu; Toosi, Mehran Beiraghi; Sedighzadeh, Sahar; Siu, Victoria Mok; Dario Ortigoza-Escobar, Juan; AlShamsi, Aisha M.; Ibrahim, Shahnaz; Al-Sannaa, Nouriya Abbas; Al-Hertani, Walla; Sandra, Whalen; Tarnopolsky, Mark; Alavi, Shahryar; Li, Chumei; Day-Salvatore, Debra-Lynn; Jesus Martinez-Gonzalez, Maria; Levandoski, Kristin M.; Bedoukian, Emma; Madan-Khetarpal, Suneeta; Idleburg, Michaela J.; Menezes, Minal Juliet; Siddharth, Aishwarya; Platzer, Konrad; Oppermann, Henry; Smitka, Martin; Collins, Felicity; Lek, Monkol; Shahrooei, Mohmmad; Ghavideldarestani, Maryam; Herman, Isabella; Rendu, John; Faure, Julien; Baker, Janice; Bhambhani, Vikas; Calderwood, Laurel; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh Sadat; Hashemi, Narges; Doosti, Mohammad; Safi, Mojtaba; Ahangari, Najmeh; Torbati, Paria Najarzadeh; Abedini, Soheila; Salpietro, Vincenzo; Gulec, Elif Yilmaz; Eshaghian, Safieh; Ghazavi, Mohammadreza; Pascher, Michael T.; Vogel, Marina; Abicht, Angela; Moutton, Sebastien; Bruel, Ange-Line; Rieubland, Claudine; Gallati, Sabina; Strom, Tim M.; Lochmueller, Hanns; Mohammadi, Mohammad Hasan; Alvi, Javeria Raza; Zackai, Elaine H.; Keena, Beth A.; Skraban, Cara M.; Berger, Seth, I; Andrew, Erin H.; Rahimian, Elham; Morrow, Michelle M.; Wentzensen, Ingrid M.; Millan, Francisca; Henderson, Lindsay B.; Dafsari, Hormos Salimi; Jungbluth, Heinz; Gomez-Ospina, Natalia; McRae, Anne; Peter, Merlene; Veltra, Danai; Marinakis, Nikolaos M.; Sofocleous, Christalena; Ashrafzadeh, Farah; Pehlivan, Davut; Lemke, Johannes R.; Melki, Judith; Benezit, Audrey; Bauer, Peter; Weis, Denisa; Lupski, James R.; Senderek, Jan; Christodoulou, John; Chung, Wendy K.; Goodchild, Rose; Offiah, Amaka C.; Moreno-De-Luca, Andres; Suri, Mohnish; Ebrahimi-Fakhari, Darius; Houlden, Henry; Maroofian, Reza
Academic Journal
Moreno-De-Luca, Andrés; Millan, Francisca; Pesacreta, Denis R.; Elloumi, Houda Z.; Oetjens, Matthew T.; Teigen, Claire; Wain, Karen E.; Scuffins, Julie; Myers, Scott M.; Torene, Rebecca I.; Gainullin, Vladimir G.; Arvai, Kevin; Kirchner, H. Lester; Ledbetter, David H.; Retterer, Kyle; Martin, Christa L.
Academic Journal
Jacobs, Eva Z.; Brown, Kathleen; Byler, Melissa C.; D'haenens, Erika; Dheedene, Annelies; Henderson, Lindsay B.; Humberson, Jennifer B.; Jaarsveld, Richard H.; Kanani, Farah; Lebel, Robert Roger; Millan, Francisca; Oegema, Renske; Oostra, Ann; Parker, Michael J.; Rhodes, Lindsay; Saenz, Margarita; Seaver, Laurie H.; Si, Yue; Vanlander, Arnaud; Vergult, Sarah
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[AR] Millan, Francisca
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