학술논문
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'학술논문'
에서 검색결과 154건 | 목록
1~20
Academic Journal
Anderson, Eric N. ; Drukewitz, Stephan ; Kour, Sukhleen ; Chimata, Anuradha V. ; Rajan, Deepa S. ; Schönnagel, Senta ; Stals, Karen L. ; Donnelly, Deirdre ; O'Sullivan, Siobhan ; Mantovani, John F. ; Tan, Tiong Y. ; Stark, Zornitza ; Zacher, Pia ; Chatron, Nicolas ; Monin, Pauline ; Drunat, Severine ; Vial, Yoann ; Latypova, Xenia ; Levy, Jonathan ; Verloes, Alain ; Carter, Jennefer N. ; Bonner, Devon E. ; Shankar, Suma P. ; Bernstein, Jonathan A. ; Cohen, Julie S. ; Comi, Anne ; Carere, Deanna Alexis ; Dyer, Lisa M. ; Mullegama, Sureni V. ; Sanchez-Lara, Pedro A. ; Grand, Katheryn ; Kim, Hyung-Goo ; Ben-Mahmoud, Afif ; Gospe, Sidney M., Jr. ; Belles, Rebecca S. ; Bellus, Gary ; Lichtenbelt, Klaske D. ; Oegema, Renske ; Rauch, Anita ; Ivanovski, Ivan ; Mau-Them, Frederic Tran ; Garde, Aurore ; Rabin, Rachel ; Pappas, John ; Bley, Annette E. ; Bredow, Janna ; Wagner, Timo ; Decker, Eva ; Bergmann, Carsten ; Domenach, Louis ; Margot, Henri ; Lemke, Johannes R. ; Abou Jamra, Rami ; Hentschel, Julia ; Mefford, Heather ; Singh, Amit ; Pandey, Udai Bhan ; Platzer, Konrad
In The American Journal of Human Genetics 8 January 2026 113(1):100-116
Academic Journal
Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips, John; Koziura, Mary; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana; Walsh, Matthew; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah; Fitzgerald, Mark; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico; Acosta, Maria; Adams, David; Alvarez, Raquel; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan; Afzali, Ben; Bacino, Carlos; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan; Behrens, Edward; Bejerano, Gill; Bellen, Hugo; Bennett, Jimmy; Bernstein, Jonathan; Berry, Gerard; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren; Brown, Gabrielle; Burke, Elizabeth; Burrage, Lindsay; Butte, Manish; Byers, Peter; Byrd, William; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta; Chanprasert, Sirisak; Chao, Hsiaotuan; Chinn, Ivan; Clark, Gary; Coakley, Terra; Cobban, Laurel; Cogan, Joy; Coggins, Matthew; Cole, F; Colley, Heather; Cope, Heidi; Corona, Rosario; Craigen, William; Crouse, Andrew; Cunningham, Michael; D’souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti; Delgado, Margaret; Dell'Angelica, Esteban; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia; Douine, Emilie; Earl, Dawn; Eckstein, David; Emrick, Lisa; Eng, Christine; Falk, Marni; Fieg, Elizabeth; Fisher, Paul; Fogel, Brent; Forghani, Irman; Fu, Jiayu; Gahl, William; Glass, Ian; Goddard, Page; Godfrey, Rena; Grajewski, Alana; Gropman, Andrea; Halley, Meghan; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki; Holm, Ingrid; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa; Kohane, Isaac; Kohler, Jennefer; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna; Kravets, Elijah; Lalani, Seema; Lam, Byron; Lam, Christina; Lanpher, Brendan; Lanza, Ian; Leblanc, Kimberly; Lee, Brendan; Levitt, Roy; Lewis, Richard; Liu, Pengfei; Liu, Xue; Longo, Nicola; Loo, Sandra; Loscalzo, Joseph; Maas, Richard; Macnamara, Ellen; Macrae, Calum; Maduro, Valerie; Maghiro, Audreystephannie; Mahoney, Rachel; Malicdan, May; Mamounas, Laura; Manolio, Teri; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth; Martin, Martin; Martínez-Agosto, Julian; Marwaha, Shruti; Mccauley, Jacob; Mcconkie-Rosell, Allyn; Mccray, Alexa; Mcgee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James; Pace, Laura; Pak, Stephen; Pallais, J; Papp, Jeanette; Parker, Neil; Petcharet, Leoyklang; Posey, Jennifer; Potocki, Lorraine; Swerdzewski, Barbara; Quinlan, Aaron; Rao, Deepak; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy; Rodan, Lance; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David; Sybert, Virginia; Tabor, Holly; Tan, Null; Tan, Amelia; Tarakad, Arjun; Taylor, Herman; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa; Ungar, Rachel; Urv, Tiina; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie; Wahl, Colleen; Walker, Melissa; Walley, Nicole; Wambach, Jennifer; Wan, Jijun; Wang, Lee-Kai; Wangler, Michael; Ward, Patricia; Wegner, Daniel; Weisz Hubshman, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew; Whitlock, Jordan; Wolfe, Lynne; Worley, Kim; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan
Am J Hum Genet
Academic Journal
Justice, Anne ; Kelly, Melissa A. ; Bellus, Gary ; Green, Joshua D. ; Zaidi, Raza ; Kerrins, Taylor ; Josyula, Navya ; Luperchio, Teresa R. ; Kozel, Beth A. ; Williams, Marc S.
In Human Genetics and Genomics Advances 9 January 2025 6(1)
Academic Journal
Hallgrímsson, Benedikt ; Aponte, J. David ; Katz, David C. ; Bannister, Jordan J. ; Riccardi, Sheri L. ; Mahasuwan, Nick ; McInnes, Brenda L. ; Ferrara, Tracey M. ; Lipman, Danika M. ; Neves, Amanda B. ; Spitzmacher, Jared A.J. ; Larson, Jacinda R. ; Bellus, Gary A. ; Pham, Anh M. ; Aboujaoude, Elias ; Benke, Timothy A. ; Chatfield, Kathryn C. ; Davis, Shanlee M. ; Elias, Ellen R. ; Enzenauer, Robert W. ; French, Brooke M. ; Pickler, Laura L. ; Shieh, Joseph T.C. ; Slavotinek, Anne ; Harrop, A. Robertson ; Innes, A. Micheil ; McCandless, Shawn E. ; McCourt, Emily A. ; Meeks, Naomi J.L. ; Tartaglia, Nicole R. ; Tsai, Anne C.-H. ; Wyse, J. Patrick H. ; Bernstein, Jonathan A. ; Sanchez-Lara, Pedro A. ; Forkert, Nils D. ; Bernier, Francois P. ; Spritz, Richard A. ; Klein, Ophir D.
In Genetics in Medicine October 2020 22(10):1682-1693
Academic Journal
Ilaria Parenti; Elsa Leitão; Alma Kuechler; Laurent Villard; Cyril Goizet; Cécile Courdier; Allan Bayat; Alessandra Rossi; Sophie Julia; Ange-Line Bruel; Frédéric Tran Mau-Them; Sophie Nambot; Daphné Lehalle; Marjolaine Willems; James Lespinasse; Jamal Ghoumid; Roseline Caumes; Thomas Smol; Salima El Chehadeh; Elise Schaefer; Marie-Thérèse Abi-Warde; Boris Keren; Alexandra Afenjar; Anne-Claude Tabet; Jonathan Levy; Anna Maruani; Ángel Aledo-Serrano; Waltraud Garming; Clara Milleret-Pignot; Anna Chassevent; Marije Koopmans; Nienke E. Verbeek; Richard Person; Rebecca Belles; Gary Bellus; Bonnie A. Salbert; Frank J. Kaiser; Laure Mazzola; Philippe Convers; Laurine Perrin; Amélie Piton; Gert Wiegand; Andrea Accogli; Francesco Brancati; Fabio Benfenati; Nicolas Chatron; David Lewis-Smith; Rhys H. Thomas; Federico Zara; Pasquale Striano; Gaetan Lesca; Christel Depienne
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Academic Journal
Claes, Kathleen B. M.; Rednam, Surya; Pond, Dinel A.; Hicks, Alesha D.; Randolph, Linda M.; Lewis, Andrea M.; Ojeda, Mayra Martinez; Gupta, Punita; Jordan, Justin T.; Pierpont, Mary Ella; Koczkowska, Magdalena; Schaefer, G. Bradley; Rutledge, S. Lane; Saletti, Veronica; Bellus, Gary; Chen, Yunjia; Denayer, Ellen; Wakefield, Emily G.; Bird, Lynne M.; Perreault, Sebastién; Martin, Yolanda; Cannon, Ashley; van Minkelen, Rick; McDougall, Carey; Sharp, Angela; Digilio, Maria C.; Wangler, Michael F.; Janssens, Sandra; Schorry, Elizabeth K.; Burke, Leah W.; Collins, Felicity; Scott, Daryl A.; Mahoney, Maurice J.; Basel, Donald G.; Mori, Mari; Oostenbrink, Rianne; DeFilippo, Colette; Greenwood, Robert S.; Piscopo, Carmelo; Griffis, Cristin; Lonardo, Fortunato; Aylsworth, Arthur S.; Listernick, Robert H.; Shugar, Andrea; Kannu, Peter; Ullrich, Nicole J.; Dills, Shelley K.; Starr, Lois J.; Miller, David T.; Walsh, Laurence E.; Gomes, Alicia; Korf, Bruce R.; Callens, Tom; Zackai, Elaine; Syed, Ashraf; Dosa, Laura; De Luca, Alessandro; Rauen, Katherine A.; Messiaen, Ludwine M.; Wimmer, Katharina; McDonald, Marie T.; Blazo, Maria A.; Azizi, Amedeo A.; Hachen, Rachel K.; Legius, Eric; Trapane, Pamela L.; Jones, Kristi J.; Siqveland, Elizabeth; Mendelsohn, Nancy; Hernández-Chico, Concepción
Genet Med
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
Genetics in Medicine, vol 21, iss 4
GENETICS IN MEDICINE
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
Genetics in Medicine, vol 21, iss 4
GENETICS IN MEDICINE
Academic Journal
Gripp, Karen W.; Baker, Laura; Robbins, Katherine M.; Stabley, Deborah L.; Bellus, Gary A.; Kolbe, Verena; Nauth, Theresa; Rosenberger, Georg
European Journal of Human Genetics. 28(11):1548-1554
Abman, Steven H., MD; Ali, Noorjahan, MD, MSc; Allegaert, Karel, MD, PhD; Anderson, Jamie E., MD, MPH; Ansah, Deidra A., MD; Arya, Bhawna, MD; Askenazi, David, MD, MSPH; Aucott, Susan W., MD; Back, Stephen A., MD, PhD; Baer, Gerri R., MD; Baldwin, H. Scott, MD; Ballas, Jerasimos, MD, MPH; Batra, Maneesh, MD, MPH; Bayart, Cheryl, MD, MPH; Bellus, Gary A., MD, PhD; Benjamin, John T., MD, MPH; Berry, Gerard T., MD; Billimoria, Zeenia C., MD; Binenbaum, Gil, MD, MSCE; Blessing, Matthew S., MD; Boos, Markus D., MD, PhD; Bosse, Brad, MD; Bouchard, Maryse L., MD, MSc; Brandling-Bennett, Heather A., MD; Brown, Colleen, WHNP-BC, MSN; Brown, Erin G., MD; Campbell, Katherine H., MD, MPH; Carlberg, Katie, MD; Carter, Brian S., MD; Chabra, Shilpi, MD; Chang, Irene J., MD; Cheng, Edith Y., MD, MS; Chiang, Kai-wen; Christensen, Robert D., MD; Chun, Terrence, MD; Clyman, Ronald I., MD; Cortezzo, Donna, Maria E., MD; Cotten, C.M., MD, MHS; Courtney, Sherry E., MD, MS; Davis, Jonathan M., MD; de Alba Campomanes, Alejandra G., MD, MPH; Dean, Benjamin, MD, PhD; Dees, Ellen, MD; De, Mauro, Sara B., MD, MSCE; Denne, Scott C., MD; Deschmann, Emöke, MD, MMSc, PhD; Di Blasi, Carolina Cecilia, MD; Di, Vall, Sara A., MD; Doherty, Dan, MD, PhD; Durand, David J., MD; Dyess, Nicolle Fernández, MD, MEd; Eichenwald, Eric C., MD; Eitel, Kelsey B., MD; Engen, Rachel M., MD, MS; Evans, Kelly N., MD; Farmer, Diana L., MD, FACS, FRCS; Fay, Emily, MD; Fechner, Patricia Y., MD; Fleishman, Rachel, MD; Fleiss, Bobbi, PhD; Flynn, Joseph, Jr., MD, MS; Flynn-O’Brien, Katherine T., MD, MPH; Kyle Fulton, G., MD; Gallagher, Renata C., MD, PhD; Gauda, Estelle B., MD; Christopher Golden, W., MD; Gontasz, Michelle M., MD; Estévez, Natasha González, MD; Gospe, Sidney M., Jr., MD, PhD; Gressens, Pierre, MD, PhD; Gupta, Deepti, MD; Hingorani, Sangeeta, MD, MPH; Hinson, Ashley P., MD; Hintz, Susan R., MD, MS (Epi); Alan Hodson, W., MMSc, MD; Hoppe, Kara K., DO, MS; Huang, Alyssa, MD; Huang, Benjamin, MD; Huen, Kathy, MD, MPH; Huff, Katie A., MD, MS; Ionita, Cristian, MD; Craig Jackson, J., MD, MHA; Jackson, Jordan E., MD; Jaksic, Tom, MD, PhD; Javid, Patrick J., MD; Johnson, Julia, MD, PhD; Josephson, Cassandra D., MD; Jungheim, Emily S., MD, MSCI; Juul, Sandra E., MD, PhD; Kabbany, Mohammad Nasser, MD; Karpen, Heidi, MD; Keefe, Gregory, MD; Keene, Jennifer C., MD, MS, MBA; Keiser, Amaris M., MD; Keller, Roberta L., MD; Kelly, Thomas F., MD; Khorsand, Kate, MD; Kim, Grace, MD, MS; Kinsella, John P., MD; Komorowski, Allison S., MD; Koves, Ildiko H., MD, FRACP; Lagatta, Joanne M., MD, MS; Lakshminrusimha, Satyan, MBBS, MD, FAAP; Lam, Christina, MD; Lantos, John D., MD; Law, Janessa B., MD; Lee, Su Yeon, MD; Levy, Ofer, MD, PhD; Lewis, David B., MD; Lin, Philana Ling, MD, MSc; Lorch, Scott A., MD, MSCE; Lucas, Tiffany L., MD; Maheshwari, Akhil, MD; Maltepe, Emin, MD, PhD; Mandell, Erica, DO; Manimtim, Winston M., MD; Martin, Richard J., MBBS; Mayock, Dennis E., MD; Mc, Aleer, Irene, MD, JD, MBA; McQuillen, Patrick, MD; Melvin, Ann J., MD, MPH; Merguerian, Paul A., MD, MS; Merjaneh, Lina, MD; Lawrence Merritt, J., II, MD; Mezger, Valerie, PhD; Michaels, Marian G., MD, MPH; Mietzsch, Ulrike, MD; Miller, Steven P., MDCM, MAS; Moore, Thomas R., MD; Murray, Karen F., MD; Nandi-Munshi, Debika, MD; Natarajan, Niranjana, MD; Ness, Kathryn D., MD, MSCI; Neu, Josef, MD; Noori, Shahab, MD, MS, CBTI; O’Shea, Thomas Michael, Jr., MD, MPH; Oatts, Julius T., MD, MHS; Paneth, Nigel, MD, MPH; Parker, Thomas A., MD; Patel, Ravi Mangal, MD, MSc; Patel, Simran, BS; Penn, Anna A., MD, PhD; Pettker, Christian M., MD; Peyvandi, Shabnam, MD, MAS; Pihoker, Catherine, MD; Plosa, Erin, MD; Poindexter, Brenda, MD, MS; Posencheg, Michael A., MD; Puia-Dumitrescu, Mihai, MD, MPH; Cardona, Vilmaris Quiñones, MD; Rice-Townsend, Samuel E., MD; Riddle, Art, MD, PhD; Robbins, Elizabeth, MD; Rollins, Mark D., MD, PhD; Rosen, Mark A., MD; Rowe, Courtney K., MD; Sahai, Inderneel, MD; Saitta, Sulagna C., MD, PhD; Salehi, Parisa, MD; Sanchez, Pablo J., MD; Sawyer, Taylor, DO, MBA, MEd; Saxonhouse, Matthew A., MD; Schroeder, Katherine M., MD, MS; Selewski, David T., MD, MSCR; Niroshi Senaratne, T., PhD, FACMG; Seri, Istvan, MD, PhD, Hon, D, Hon, P; Sharpe, Emily E., MD; Sheppard, Sarah E., MD, PhD; Shnorhavorian, Margarett, MD, MPH, FAAP, FACS; Sidbury, Robert, MD, MPH; Simmons, La, Vone, MD; Simmons, Rebecca A., MD; Singh, Rachana, MD, MS; Sola-Visner, Martha C., MD; Srinivasan, Lakshmi, MBBS, MTR; Steflik, Heidi J., MD, MSCR; Steinhorn, Robin H., MD; Stokes, Caleb, MD, PhD; Stolp, Helen, BSc(Hons), PhD; Sucre, Jennifer, MD; Sun, Angela, MD; Taha, Dalal K., DO; Tenney, Jessica, MD; Thomas, Janet A., MD; Tiller, George E., MD, PhD, FACMG; Torres, Benjamin A., MD; Truog, William E., MD; Upadhyay, Kirtikumar, MD; Valentine, Gregory C., MD, MEd; van den Anker, John N., MD, PhD; Vohr, Betty, MD; Wallen, Linda D., MD; Wang, Peter (Zhan Tao), MD, FRCSC; Warady, Bradley A., MD; Ward, Robert M., MD, FACCP, DABCP; Watchko, Jon F., MD; Wehbi, Elias, MD, MSc, FRCSC; Weitkamp, Joern-Hendrik, MD; Werny, David, MD, MPH; White, Klane K., MD, MSc; Taylor Wild, K., MD; Wiley, Susan, MD; Willig, Laurel, MD, MS; Woodward, George A., MD, MBA; Wright, Clyde J., MD; Yonekawa, Karyn, MD; Yu, Elizabeth, MD; Zackai, Elaine H., MD
Avery's Diseases of the Newborn. :vii-xix
Academic Journal
Tomasz Gambin; Bo Yuan; Weimin Bi; Pengfei Liu; Jill A. Rosenfeld; Zeynep Coban-Akdemir; Amber N. Pursley; Sandesh C. S. Nagamani; Ronit Marom; Sailaja Golla; Lauren Dengle; Heather G. Petrie; Reuben Matalon; Lisa Emrick; Monica B. Proud; Diane Treadwell-Deering; Hsiao-Tuan Chao; Hannele Koillinen; Chester Brown; Nora Urraca; Roya Mostafavi; Saunder Bernes; Elizabeth R. Roeder; Kimberly M. Nugent; Patricia I. Bader; Gary Bellus; Michael Cummings; Hope Northrup; Myla Ashfaq; Rachel Westman; Robert Wildin; Anita E. Beck; LaDonna Immken; Lindsay Elton; Shaun Varghese; Edward Buchanan; Laurence Faivre; Mathilde Lefebvre; Christian P. Schaaf; Magdalena Walkiewicz; Yaping Yang; Sung-Hae L. Kang; Seema R. Lalani; Carlos A. Bacino; Arthur L. Beaudet; Amy M. Breman; Janice L. Smith; Sau Wai Cheung; James R. Lupski; Ankita Patel; Chad A. Shaw; Paweł Stankiewicz
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Academic Journal
Anke Vermehren-Schmaedick; Jeffrey Y. Huang; Madison Levinson; Matthew B. Pomaville; Sarah Reed; Gary A. Bellus; Fred Gilbert; Boris Keren; Delphine Heron; Damien Haye; Christine Janello; Christine Makowski; Katharina Danhauser; Lev M. Fedorov; Tobias B. Haack; Kevin M. Wright; Michael S. Cohen
Cells, Vol 10, Iss 6, p 1289 (2021)
Academic Journal
Journal of the American Academy of Dermatology. 65(5):1054-1058
Academic Journal
Koczkowska, Magdalena; Callens, Tom; Gomes, Alicia; Sharp, Angela; Chen, Yunjia; Hicks, Alesha D.; Aylsworth, Arthur S.; Azizi, Amedeo A.; Basel, Donald G.; Bellus, Gary; Bird, Lynne M.; Blazo, Maria A.; Burke, Leah W.; Cannon, Ashley; Collins, Felicity; DeFilippo, Colette; Denayer, Ellen; Digilio, Maria C.; Dills, Shelley K.; Dosa, Laura; Greenwood, Robert S.; Griffis, Cristin; Gupta, Punita; Hachen, Rachel K.; Hernández-Chico, Concepción; Janssens, Sandra; Jones, Kristi J.; Jordan, Justin T.; Kannu, Peter; Korf, Bruce R.; Lewis, Andrea M.; Listernick, Robert H.; Lonardo, Fortunato; Mahoney, Maurice J.; Ojeda, Mayra Martinez; McDonald, Marie T.; McDougall, Carey; Mendelsohn, Nancy; Miller, David T.; Mori, Mari; Oostenbrink, Rianne; Perreault, Sebastién; Pierpont, Mary Ella; Piscopo, Carmelo; Pond, Dinel A.; Randolph, Linda M.; Rauen, Katherine A.; Rednam, Surya; Rutledge, S. Lane; Saletti, Veronica; Schaefer, G. Bradley; Schorry, Elizabeth K.; Scott, Daryl A.; Shugar, Andrea; Siqveland, Elizabeth; Starr, Lois J.; Syed, Ashraf; Trapane, Pamela L.; Ullrich, Nicole J.; Wakefield, Emily G.; Walsh, Laurence E.; Wangler, Michael F.; Zackai, Elaine; Claes, Kathleen B. M.; Wimmer, Katharina; van Minkelen, Rick; De Luca, Alessandro; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine M.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):764-765
Academic Journal
Bartnik, Magdalena ; Derwińska, Katarzyna ; Gos, Monika ; Obersztyn, Ewa ; Kołodziejska, Katarzyna E. ; Erez, Ayelet ; Szpecht-Potocka, Agnieszka ; Fang, Ping ; Terczyńska, Iwona ; Mierzewska, Hanna ; Lohr, Naomi J. ; Bellus, Gary A. ; Reimschisel, Tyler ; Bocian, Ewa ; Mazurczak, Tadeusz ; Cheung, Sau Wai ; Stankiewicz, Paweł
In Genetics in Medicine May 2011 13(5):447-452
Academic Journal
Pacheco, Theresa R.; Oreskovich, Nicole M.; Bellus, Gary A.; Talbert, Janet; Old, William; Fain, Pamela R.
Journal of Investigative Dermatology. 119:535-538
Academic Journal
Garrity, Madison; Kavus, Haluk; Rojas-Vasquez, Marta; Valenzuela, Irene; Larson, Austin; Reed, Sara; Bellus, Gary; Mignot, Cyril; Munnich, Arnold; Isidor, Bertrand; Chung, Wendy
Cold Spring Harb Mol Case Stud
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
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Academic Journal
Bellus, Gary A.; Spector, Elaine B.; Speiser, Phyllis W.; Weaver, Christine A.; Garber, Anthony T.; Bryke, Christine R.; Israel, Jamie; Rosengren, Sally S.; Webster, Melanie K.; Donoghue, Daniel J.; Francomano, Clair A.
The American Journal of Human Genetics. 67:1411-1421
Book
In Avery. Enfermedades del recién nacido Edition: Eleventh Edition. 2025:1306-1324
Academic Journal
Tavormina, Patricia L.; Bellus, Gary A.; Webster, Melanie K.; Bamshad, Michael J.; Fraley, Alexander E.; McIntosh, Iain; Szabo, Jinny; Jiang, Wen; Jabs, Ethylin W.; Wilcox, William R.; Wasmuth, John J.; Donoghue, Daniel J.; Thompson, Leslie M.; Francomano, Clair A.
The American Journal of Human Genetics. 64:722-731
Academic Journal
Kelly, Daniel P.; Whelan, Alison J.; Ogden, Moira L.; Alpers, Ruth; Zhang, Zhifang; Bellus, Gary; Gregersen, Niels; Dorland, L.; Strauss, Arnold W.
Proceedings of the National Academy of Sciences of the United States of America, 1990 Dec 01. 87(23), 9236-9240.
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