학술논문
'학술논문'
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1~10
Academic Journal
Kishnani, Priya S.; Abbott, Mary-Alice; Toscano, Antonio; Foster, Meredith C.; Periquet, Magali; Sparks, Susan; Schoser, Benedikt
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M; Sanchez‐Lara, Pedro A; Del Campo, Miguel; Jones, Marilyn C; Abdul‐Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben‐Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary‐Alice; Allain, Dawn C; Amlie‐Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon‐Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores‐Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin‐To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui‐Yan; Jobling, Rebekah K; Johnson, Amy E Knight; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell‐Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J
American Journal of Medical Genetics Part A. 185(6)
Academic Journal
Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A.; Rawson, Kristyn L.; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D. Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Nelson, Stanley F.
Academic Journal
Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi JL; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Russi, Alvaro H Serrano; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H
Journal of Inherited Metabolic Disease. 43(6)
Academic Journal
Prenatal Diagnosis; Dec2023, Vol. 43 Issue 13, p1671-1673, 3p
Academic Journal
Reuser, Arnold JJ; Ploeg, Ans T; Chien, Yin‐Hsiu; Llerena, Juan; Abbott, Mary‐Alice; Clemens, Paula R; Kimonis, Virginia E; Leslie, Nancy; Maruti, Sonia S; Sanson, Bernd‐Jan; Araujo, Roberto; Periquet, Magali; Toscano, Antonio; Kishnani, Priya S; Sites, on behalf of the Pompe Registry
Human Mutation. 40(11)
Roseman, Alexander S.; Blackburn, Patrick R.; Bakshi, Shubham; Grady, Lisa; Abbott, Mary-Alice; Hassan, Sajjad; Hunt, John; Richardson, Matthew; Peterson, Jess F.; Nguyen, Phuong; Greipp, Patricia T.; Singh, Rachana
In Cancer Genetics June 2020 244:62-64
Academic Journal
Nouduri, Sirisha; Padmanabhan, Rajiv; Hicks, Richard; Abbott, Mary-Alice; O’Brien, Dennis; Schlaug, Gottfried
Frontiers in Neurology; 12/14/2022, Vol. 13, p01-04, 4p
Academic Journal
Stevens, Servi J. C.; Stumpel, Constance T. R. M.; Diderich, Karin E. M.; van Slegtenhorst, Marjon A.; Abbott, Mary‐Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C.; Leonard, Jacqueline; Murrell, Jill R.; van de Putte, Romy; van Rooij, Iris A. L. M.; Hoischen, Alexander; Lasko, Paul; Brunner, Han G.
Academic Journal
Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary‐Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza‐Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia
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[AR] Abbott, Mary-Alice
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