학술논문
'학술논문'
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1~10
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
Academic Journal
Marina Villamor-Payà; María Sanchiz-Calvo; Jordann Smak; Lynn Pais; Malika Sud; Uma Shankavaram; Alysia Kern Lovgren; Christina Austin-Tse; Vijay S. Ganesh; Marina Gay; Marta Vilaseca; Gianluca Arauz-Garofalo; Lluís Palenzuela; Grace VanNoy; Anne O’Donnell-Luria; Travis H. Stracker
iScience, Vol 27, Iss 6, Pp 109984- (2024)
Academic Journal
Christina Austin-Tse; Stephanie DiTroia; Melanie O'Leary; Grace VanNoy; Brian Mangilog; Gulalai Shah; Eva Martinez; Jillian Serrano; Lynn Pais; Emily O'Heir; Ikeoluwa Osei-Owusu; Gabrielle Lemire; Vijay Ganesh; Sarah Stenton; Mutaz Amin; Kayla Socarras; Mugdha Singh; Stacey Hall; Katie Larsson; Moriel Singer-Berk; Daniel Marten; Michael Wilson; Hana Snow; Benjamin Blankenmeister; Jialan Ma; Ben Weisburd; Alba Sanchis-Juan; Harrison Brand; Emily Groopman; Alysia Lovgren; Clara Williamson; Marissa Hollyer; Eleina England; Eleanor Seaby; Katherine Chao; Julia Goodrich; Samantha Baxter; Daniel MacArthur; Michael Talkowski; Monica Wojcik; Anne O'Donnell-Luria; Heidi Rehm
Genetics in Medicine Open, Vol 2, Iss , Pp 101481- (2024)
Academic Journal
Villamor-Payà, Marina; Sanchiz-Calvo, María; Smak, Jordann; Pais, Lynn; Sud, Malika; Shankavaram, Uma; Lovgren, Alysia Kern; Austin-Tse, Christina; Ganesh, Vijay S.; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Palenzuela, Lluís; VanNoy, Grace; O’Donnell-Luria, Anne; Stracker, Travis H.
In iScience 21 June 2024 27(6)
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, María; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Duncan, Anna R; Polovitskaya, Maya M; Gaitán-Peñas, Héctor; Bertelli, Sara; VanNoy, Grace E; Grant, Patricia E; O’Donnell-Luria, Anne; Valivullah, Zaheer; Lovgren, Alysia Kern; England, Elaina M; Agolini, Emanuele; Madden, Jill A; Schmitz-Abe, Klaus; Kritzer, Amy; Hawley, Pamela; Novelli, Antonio; Alfieri, Paolo; Colafati, Giovanna Stefania; Wieczorek, Dagmar; Platzer, Konrad; Luppe, Johannes; Koch-Hogrebe, Margarete; Jamra, Rami Abou; Neira-Fresneda, Juanita; Lehman, Anna; Boerkoel, Cornelius F; Seath, Kimberly; Clarke, Lorne; Study, CAUSES; van Ierland, Yvette; Argilli, Emanuela; Sherr, Elliott H; Maiorana, Andrea; Diel, Thilo; Hempel, Maja; Bierhals, Tatjana; Estévez, Raúl; Jentsch, Thomas J; Pusch, Michael; Agrawal, Pankaj B
American Journal of Human Genetics. 108(8)
Academic Journal
Chai, Guoliang; Webb, Alice; Li, Chen; Antaki, Danny; Lee, Sangmoon; Breuss, Martin W; Lang, Nhi; Stanley, Valentina; Anzenberg, Paula; Yang, Xiaoxu; Marshall, Trevor; Gaffney, Patrick; Wierenga, Klaas J; Chung, Brian Hon-Yin; Tsang, Mandy Ho-Yin; Pais, Lynn S; Lovgren, Alysia Kern; VanNoy, Grace E; Rehm, Heidi L; Mirzaa, Ghayda; Leon, Eyby; Diaz, Jullianne; Neumann, Alexander; Kalverda, Arnout P; Manfield, Iain W; Parry, David A; Logan, Clare V; Johnson, Colin A; Bonthron, David T; Valleley, Elizabeth MA; Issa, Mahmoud Y; Abdel-Ghafar, Sherif F; Abdel-Hamid, Mohamed S; Jennings, Patricia; Zaki, Maha S; Sheridan, Eamonn; Gleeson, Joseph G
Neuron. 109(2)
Academic Journal
Emily O'Heir; Patricia Kipkemoi; Heesu Ally Kim; Bjorn Christ; Emma Eastman; Celia van der Merwe; Alice Galvin; Jake Allen; Victoria de Menil; Alysia Lovgren; Christina Austin-Tse; Amina Abubakar; Charles Newton; Kirsten Donald; Anne O'Donnell-Luria; Elise Robinson
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100570- (2023)
Academic Journal
Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A.; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogné, Benjamin; Coubes, Christine; de Man, Stella A.; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Müller, Amelie J.; O’Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlüter, Agatha; Schönewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmée; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmüller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gómez-Puertas, Paulino; Pujol, Aurora; Tümer, Zeynep
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(5):888-899
Academic Journal
Kipkemoi, Patricia; Kim, Heesu Ally; Christ, Bjorn; O'Heir, Emily; Allen, Jake; Austin-Tse, Christina; Baxter, Samantha; Brand, Harrison; Bryant, Sam; Buser, Nick; de Menil, Victoria; Eastman, Emma; Murugasen, Serini; Galvin, Alice; Kombe, Martha; Ngombo, Alfred; Mkubwa, Beatrice; Mwangi, Paul; Kipkoech, Collins; Lovgren, Alysia; MacArthur, Daniel G.; Melly, Brigitte; Mwangasha, Katini; Martin, Alicia; Nkambule, Lethukuthula L.; Sanchis-Juan, Alba; Singer-Berk, Moriel; Talkowski, Michael E.; VanNoy, Grace; van der Merwe, Celia; Newton, Charles; O'Donnell-Luria, Anne; Abubakar, Amina; Donald, Kirsten A.; Robinson, Elise B.
Academic Journal
Austin-Tse, Christina; DiTroia, Stephanie; O'Leary, Melanie; VanNoy, Grace; Mangilog, Brian; Shah, Gulalai; Martinez, Eva; Serrano, Jillian; Pais, Lynn; O'Heir, Emily; Osei-Owusu, Ikeoluwa; Lemire, Gabrielle; Ganesh, Vijay; Stenton, Sarah; Amin, Mutaz; Socarras, Kayla; Singh, Mugdha; Hall, Stacey; Larsson, Katie; Singer-Berk, Moriel; Marten, Daniel; Wilson, Michael; Snow, Hana; Blankenmeister, Benjamin; Ma, Jialan; Weisburd, Ben; Sanchis-Juan, Alba; Brand, Harrison; Groopman, Emily; Lovgren, Alysia; Williamson, Clara; Hollyer, Marissa; England, Eleina; Seaby, Eleanor; Chao, Katherine; Goodrich, Julia; Baxter, Samantha; MacArthur, Daniel; Talkowski, Michael; Wojcik, Monica; O'Donnell-Luria, Anne; Rehm, Heidi
In Genetics in Medicine Open 2024 2 Supplement 1
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[검색어] Lovgren, Alysia
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