학술논문
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Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
Academic Journal
Ng, Bobby G; Xu, Gege; Chandy, Nandini; Steyermark, Joan; Shinde, Deepali N; Radtke, Kelly; Raymond, Kimiyo; Lebrilla, Carlito B; AlAsmari, Ali; Suchy, Sharon F; Powis, Zöe; Faqeih, Eissa Ali; Berry, Susan A; Kronn, David F; Freeze, Hudson H
American Journal of Human Genetics. 102(1)
Academic Journal
Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Cho, Megan Truitt; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, Solange; Chong, Shuk Ching; Bower, Matthew; Monaghan, Kristin G; Willaert, Rebecca; Plona, Maria-Renee; Dineen, Rich; Milan, Francisca; Hoganson, George; Powis, Zoe; Helbig, Katherine L; Keller-Ramey, Jennifer; Harris, Belinda; Anderson, Laura C; Green, Torrian; Rizzo, Stacey J Sukoff; Kaylor, Julie; Chen, Jiani; Guan, Min-Xin; Sellars, Elizabeth; Sparagana, Steven P; Gibson, James B; Reinholdt, Laura G; Tang, Sha; Huang, Taosheng
Human Molecular Genetics. 26(24)
Academic Journal
Myers, Candace T; Stong, Nicholas; Mountier, Emily I; Helbig, Katherine L; Freytag, Saskia; Sullivan, Joseph E; Ben Zeev, Bruria; Nissenkorn, Andreea; Tzadok, Michal; Heimer, Gali; Shinde, Deepali N; Rezazadeh, Arezoo; Regan, Brigid M; Oliver, Karen L; Ernst, Michelle E; Lippa, Natalie C; Mulhern, Maureen S; Ren, Zhong; Poduri, Annapurna; Andrade, Danielle M; Bird, Lynne M; Bahlo, Melanie; Berkovic, Samuel F; Lowenstein, Daniel H; Scheffer, Ingrid E; Sadleir, Lynette G; Goldstein, David B; Mefford, Heather C; Heinzen, Erin L
American journal of human genetics. 101(4)
Academic Journal
von Spiczak, Sarah; Helbig, Katherine L; Shinde, Deepali N; Huether, Robert; Pendziwiat, Manuela; Lourenço, Charles; Nunes, Mark E; Sarco, Dean P; Kaplan, Richard A; Dlugos, Dennis J; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R; Cervenka, Mackenzie C; Cohen, Julie S; McClellan, Rebecca; Fatemi, Ali; Yuen, Amy; Sagawa, Yoshimi; Littlejohn, Rebecca; McLean, Scott D; Hernandez-Hernandez, Laura; Maher, Bridget; Møller, Rikke S; Palmer, Elizabeth; Lawson, John A; Campbell, Colleen A; Joshi, Charuta N; Kolbe, Diana L; Hollingsworth, Georgie; Neubauer, Bernd A; Muhle, Hiltrud; Stephani, Ulrich; Scheffer, Ingrid E; Pena, Sérgio DJ; Sisodiya, Sanjay M; Helbig, Ingo
Neurology. 89(4)
Academic Journal
von Spiczak, Sarah; Helbig, Katherine L; Shinde, Deepali N; Huether, Robert; Pendziwiat, Manuela; Lourenço, Charles; Nunes, Mark E; Sarco, Dean P; Kaplan, Richard A; Dlugos, Dennis J; Kirsch, Heidi; Slavotinek, Anne; Cilio, Maria R; Cervenka, Mackenzie C; Cohen, Julie S; McClellan, Rebecca; Fatemi, Ali; Yuen, Amy; Sagawa, Yoshimi; Littlejohn, Rebecca; McLean, Scott D; Hernandez-Hernandez, Laura; Maher, Bridget; Møller, Rikke S; Palmer, Elizabeth; Lawson, John A; Campbell, Colleen A; Joshi, Charuta N; Kolbe, Diana L; Hollingsworth, Georgie; Neubauer, Bernd A; Muhle, Hiltrud; Stephani, Ulrich; Scheffer, Ingrid E; Pena, Sérgio DJ; Sisodiya, Sanjay M; Helbig, Ingo; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group
Neurology. 89(4)
Academic Journal
Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot RF; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle GM; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie TRM; Draaisma, Jos M; Nicolai, Joost; Genomics, University of Washington Center for Mendelian; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert BA; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Study, Deciphering Developmental Disorders; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander PA; Stevens, Servi JC; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G; Brunner, Han G; Mancini, Grazia M; Myers, Richard M; Owen, Laurie B; Lim, Ssang-Taek; Stachura, David L; Vissers, Lisenka ELM; Ahn, Eun-Young Erin
American Journal of Human Genetics. 99(3)
Academic Journal
Mochel, Fanny; Rastetter, Agnès; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N; Helbig, Katherine L; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S; Huisman, Sylvia A; Wilson, Golder N; Cathey, Sara S; Louie, Raymond J; Gaudio, Daniela Del; Waggoner, Darrel
Periodical
Sajan, Samin A; Ganesh, Jaya; Shinde, Deepali N; Powis, Zo¨e; Scarano, Maria I; Stone, Jennifer; Winter, Susan; Tang, Sha
Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 12 p850-854, 5p
Academic Journal
Farwell Hagman, Kelly D; Shinde, Deepali N; Mroske, Cameron; Smith, Erica; Radtke, Kelly; Shahmirzadi, Layla; El-Khechen, Dima; Powis, Zöe; Chao, Elizabeth C; Alcaraz, Wendy A; Helbig, Katherine L; Sajan, Samin A; Rossi, Mari; Lu, Hsiao-Mei; Huether, Robert; Li, Shuwei; Wu, Sitao; Nuñes, Mark E; Tang, Sha
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(9):1099-1102
Periodical
Rudolf, Gabrielle; Lesca, Gaetan; Mehrjouy, Mana M; Labalme, Audrey; Salmi, Manal; Bache, Iben; Bruneau, Nadine; Pendziwiat, Manuela; Fluss, Joel; de Bellescize, Julitta; Scholly, Julia; Møller, Rikke S; Craiu, Dana; Tommerup, Niels; Valenti-Hirsch, Maria Paola; Schluth-Bolard, Caroline; Sloan-Béna, Frédérique; Helbig, Katherine L; Weckhuysen, Sarah; Edery, Patrick; Coulbaut, Safia; Abbas, Mohamed; Scheffer, Ingrid E; Tang, Sha; Myers, Candace T; Stamberger, Hannah; Carvill, Gemma L; Shinde, Deepali N; Mefford, Heather C; Neagu, Elena; Huether, Robert; Lu, Hsiao-Mei; Dica, Alice; Cohen, Julie S; Iliescu, Catrinel; Pomeran, Cristina; Rubenstein, James; Helbig, Ingo; Sanlaville, Damien; Hirsch, Edouard; Szepetowski, Pierre
European Journal of Human Genetics: EJHG; December 2016, Vol. 24 Issue: 12 p1761-1770, 10p
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[AR] Shinde, Deepali N
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