학술논문
'학술논문'
에서 검색결과 60건 | 목록
1~10
Academic Journal
Martino, Jeremiah; Liu, Qingxue; Vukojevic, Katarina; Ke, Juntao; Lim, Tze Y.; Khan, Atlas; Gupta, Yask; Perez, Alejandra; Yan, Zonghai; Milo Rasouly, Hila; Vena, Natalie; Lippa, Natalie; Giordano, Jessica L.; Saraga, Marijan; Saraga-Babic, Mirna; Westland, Rik; Bodria, Monica; Piaggio, Giorgio; Bendapudi, Pavan K.; Iglesias, Alejandro D.; Wapner, Ronald J.; Tasic, Velibor; Wang, Fan; Ionita-Laza, Iuliana; Ghiggeri, Gian Marco; Kiryluk, Krzysztof; Sampogna, Rosemary V.; Mendelsohn, Cathy L.; D’Agati, Vivette D.; Gharavi, Ali G.; Sanna-Cherchi, Simone
In Genetics in Medicine December 2023 25(12)
Academic Journal
Journal of Medical Genetics; Jul2024, Vol. 61 Issue 7, p645-651, 10p
Academic Journal
Lippa, Natalie; Bier, Louise; Mulhern, Maureen; Hemati, Parisa; May, Halie; Florido, Michelle; Kushary, Sulagna Tina; Vena, Natalie; Revah-Politi, Anya
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Center, UCLA Clinical Genomics; Nelson, Stanley F; Grody, Wayne W; Deignan, Joshua L; Kang, Sung-Hae; Arboleda, Valerie A; Senaratne, T Niroshi; Dorrani, Naghmeh; Dutra-Clarke, Marina S; Kianmahd, Jessica; Hinkamp, Franceska L; Neustadt, Ahna M; Fogel, Brent L; Quintero-Rivera, Fabiola; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane
American Journal of Human Genetics. 107(3)
Academic Journal
Smith, Lacey; Malinowski, Jennifer; Ceulemans, Sophia; Peck, Katlin; Walton, Nephi; Sheidley, Beth Rosen; Lippa, Natalie
Journal of Genetic Counseling; Apr2023, Vol. 32 Issue 2, p266-280, 15p
Academic Journal
May, Halie J; Fasheun, Jennifer A; Bain, Jennifer M; Baugh, Evan H; Bier, Louise E; Revah‐Politi, Anya; Roye, David P; Goldstein, David B; Carmel, Jason B; Lippa, Natalie; Vena, Natalie; Kushary, Sulagna; Hyman, Joshua; Hewson, Barbara; Marboe, Charles; Anyane‐Yeboa, Kwame; Aggarwal, Vimla
Periodical
Lippa, Natalie; Bier, Louise; Revah-Politi, Anya; May, Halie; Kushary, Sulagna; Vena, Natalie; Giordano, Jessica L.; Rasouly, Hila Milo; Cocchi, Enrico; Sands, Tristan T.; Wapner, Ronald J.; Anyane-Yeboa, Kwame; Gharavi, Ali G.; Goldstein, David B.
Genetics in Medicine; April 2022, Vol. 24 Issue: 4 p862-869, 8p
Academic Journal
Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; Lyons, Michael J.; Lee, Jennifer A.; Suwannarat, Pim
Academic Journal
Miceli, Francesco; Carotenuto, Lidia; Barrese, Vincenzo; Soldovieri, Maria Virginia; Heinzen, Erin L.; Mandel, Arthur M.; Lippa, Natalie; Bier, Louise; Goldstein, David B.; Cooper, Edward C.; Cilio, Maria Roberta; Taglialatela, Maurizio; Sands, Tristan T.
Frontiers in Physiology; 9/4/2020, Vol. 11, pN.PAG-N.PAG, 11p
Electronic Resource
Sheppard, Sarah E.; Bryant, Laura; Wickramasekara, Rochelle N.; Vaccaro, Courtney; Robertson, Brynn; Hallgren, Jodi; Hulen, Jason; Watson, Cynthia J.; Faundes, Victor; Duffourd, Yannis; Lee, Pearl; Celeste Simon, M.; de la Cruz, Xavier; Padilla, Natália; Flores-Mendez, Marco; Akizu, Naiara; Smiler, Jacqueline; Da Silva, Renata Pellegrino; Li, Dong; March, Michael; Diaz-Rosado, Abdias; de Barcelos, Isabella Peixoto; Choa, Zhao Xiang; Lim, Chin Yan; Dubourg, Christèle; Journel, Hubert; Demurger, Florence; Mulhern, Maureen; Akman, Cigdem; Lippa, Natalie; Andrews, Marisa; Baldridge, Dustin; Constantino, John; van Haeringen, Arie; Snoeck-Streef, Irina; Chow, Penny; Hing, Anne; Graham, John M.; Au, Margaret; Faivre, Laurence; Shen, Wei; Mao, Rong; Palumbos, Janice; Viskochil, David; Gahl, William; Tifft, Cynthia; Macnamara, Ellen; Hauser, Natalie; Miller, Rebecca; Maffeo, Jessica; Afenjar, Alexandra; Doummar, Diane; Keren, Boris; Arn, Pamela; Macklin-Mantia, Sarah; Meerschaut, Ilse; Callewaert, Bert; Reis, André; Zweier, Christiane; Brewer, Carole; Saggar, Anand; Smeland, Marie F.; Kumar, Ajith; Elmslie, Frances; Deshpande, Charu; Nizon, Mathilde; Cogne, Benjamin; van Ierland, Yvette; Wilke, Martina; van Slegtenhorst, Marjon; Koudijs, Suzanne; Chen, Jin Yun; Dredge, David; Pier, Danielle; Wortmann, Saskia; Kamsteeg, Erik Jan; Koch, Johannes; Haynes, Devon; Pollack, Lynda; Titheradge, Hannah; Ranguin, Kara; Denommé-Pichon, Anne Sophie; Weber, Sacha; de la Fuente, Rubén Pérez; del Pozo, Jaime Sánchez; Rosales, Jose Miguel Lezana; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mei, Davide; Mari, Francesco; Guerrini, Renzo; Lespinasse, James; Mau-Them, Frédéric Tran; Philippe, Christophe; Dauriat, Benjamin; Raymond, Laure; Moutton, Sébastien; Cueto-González, Anna M.; Tan, Tiong Yang; Mignot, Cyril; Grotto, Sarah; Renaldo, Florence; Drivas, Theodore G.; Hennessy, Laura; Raper, Anna; Parenti, Ilaria; Kaiser, Frank J.; Kuechler, Alma; Busk, Øyvind L.; Islam, Lily; Siedlik, Jacob A.; Henderson, Lindsay B.; Juusola, Jane; Person, Richard; Schnur, Rhonda E.; Vitobello, Antonio; Banka, Siddharth; Bhoj, Elizabeth J.; Stessman, Holly A.F.
Sheppard , S E , Bryant , L , Wickramasekara , R N , Vaccaro , C , Robertson , B , Hallgren , J , Hulen , J , Watson , C J , Faundes , V , Duffourd , Y , Lee , P , Celeste Simon , M , de la Cruz , X , Padilla , N , Flores-Mendez , M , Akizu , N , Smiler , J , Da Silva , R P , Li , D , March , M , Diaz-Rosado , A , de Barcelos , I P , Choa , Z X , Lim , C Y , Dubourg , C , Journel , H , Demurger , F , Mulhern , M , Akman , C , Lippa , N , Andrews , M , Baldridge , D , Constantino , J , van Haeringen , A , Snoeck-Streef , I , Chow , P , Hing , A , Graham , J M , Au , M , Faivre , L , Shen , W , Mao , R , Palumbos , J , Viskochil , D , Gahl , W , Tifft , C , Macnamara , E , Hauser , N , Miller , R , Maffeo , J , Afenjar , A , Doummar , D , Keren , B , Arn , P , Macklin-Mantia , S , Meerschaut , I , Callewaert , B , Reis , A , Zweier , C , Brewer , C , Saggar , A , Smeland , M F , Kumar , A , Elmslie , F , Deshpande , C , Nizon , M , Cogne , B , van Ierland , Y , Wilke , M , van Slegtenhorst , M , Koudijs , S , Chen , J Y , Dredge , D , Pier , D , Wortmann , S , Kamsteeg , E J , Koch , J , Haynes , D , Pollack , L , Titheradge , H , Ranguin , K , Denommé-Pichon , A S , Weber , S , de la Fuente , R P , del Pozo , J S , Rosales , J M L , Joset , P , Steindl , K , Rauch , A , Mei , D , Mari , F , Guerrini , R , Lespinasse , J , Mau-Them , F T , Philippe , C , Dauriat , B , Raymond , L , Moutton , S , Cueto-González , A M , Tan , T Y , Mignot , C , Grotto , S , Renaldo , F , Drivas , T G , Hennessy , L , Raper , A , Parenti , I , Kaiser , F J , Kuechler , A , Busk , Ø L , Islam , L , Siedlik , J A , Henderson , L B , Juusola , J , Person , R , Schnur , R E , Vitobello , A , Banka , S , Bhoj , E J & Stessman , H A F 2023 , ' Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice ' , Science advances , vol. 9 , no. 10 , eade1463 .
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[AR] Lippa, Natalie
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