학술논문
'학술논문'
에서 검색결과 54건 | 목록
1~10
Academic Journal
Ryan Iverson; Monica Taljaard; Michael T. Geraghty; Michael Pugliese; Kylie Tingley; Doug Coyle; Jonathan B. Kronick; Kumanan Wilson; Valerie Austin; Catherine Brunel-Guitton; Daniela Buhas; Nancy J. Butcher; Alicia K. J. Chan; Sarah Dyack; Sharan Goobie; Cheryl R. Greenberg; Shailly Jain-Ghai; Michal Inbar-Feigenberg; Natalya Karp; Mariya Kozenko; Erica Langley; Matthew Lines; Julian Little; Jennifer MacKenzie; Bruno Maranda; Saadet Mercimek-Andrews; Aizeddin Mhanni; John J. Mitchell; Laura Nagy; Martin Offringa; Amy Pender; Murray Potter; Chitra Prasad; Suzanne Ratko; Ramona Salvarinova; Andreas Schulze; Komudi Siriwardena; Neal Sondheimer; Rebecca Sparkes; Sylvia Stockler-Ipsiroglu; Kendra Tapscott; Yannis Trakadis; Lesley Turner; Clara Van Karnebeek; Anthony Vandersteen; Jagdeep S. Walia; Brenda J. Wilson; Andrea C. Yu; Beth K. Potter; Pranesh Chakraborty
BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)
Academic Journal
Holtz, Alexander; VanCoillie, Rachel; Vansickle, Elizabeth; Carere, Deanna; Withrow, Kara; Torti, Erin; Juusola, Jane; Millan, Francisca; Person, Richard; Guillen Sacoto, Maria; Si, Yue; Wentzensen, Ingrid; Pugh, Jada; Vasileiou, Georgia; Rieger, Melissa; Reis, André; Aldinger, Kimberly; Dobyns, William; Brunet, Theresa; Hoefele, Julia; Wagner, Matias; Haber, Benjamin; Kotzaeridou, Urania; Keren, Boris; Heron, Delphine; Mignot, Cyril; Heide, Solveig; Courtin, Thomas; Buratti, Julien; Murugasen, Serini; Donald, Kirsten; OHeir, Emily; Moody, Shade; Kim, Katherine; Burton, Barbara; Yoon, Grace; Campo, Miguel; Masser-Frye, Diane; Kozenko, Mariya; Parkinson, Christina; Sell, Susan; Gordon, Patricia; Prokop, Jeremy; Karaa, Amel; Bupp, Caleb; Raby, Benjamin; Sherr, Elliott; Argilli, Emanuela
Genetics in Medicine. 24(10)
Academic Journal
Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T.; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B.; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J.; Chan, Alicia K. J.; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R.; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J.; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S.; Wilson, Brenda J.; Yu, Andrea C.; Potter, Beth K.; Chakraborty, Pranesh
BMC Pediatrics. January 13, 2024, Vol. 24 Issue 1
Academic Journal
Lee, Sangmoon; Chen, Dillon Y; Zaki, Maha S; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M; Dobyns, William B; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N; Mancini, Grazia MS; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M Chiara; Toosi, Mehran Beiraghi; Gleeson, Joseph G
American Journal of Human Genetics. 105(4)
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
American Journal of Human Genetics. 102(6)
Academic Journal
Kylie Tingley; Monica Lamoureux; Michael Pugliese; Michael T. Geraghty; Jonathan B. Kronick; Beth K. Potter; Doug Coyle; Kumanan Wilson; Michael Kowalski; Valerie Austin; Catherine Brunel-Guitton; Daniela Buhas; Alicia K. J. Chan; Sarah Dyack; Annette Feigenbaum; Alette Giezen; Sharan Goobie; Cheryl R. Greenberg; Shailly Jain Ghai; Michal Inbar-Feigenberg; Natalya Karp; Mariya Kozenko; Erica Langley; Matthew Lines; Julian Little; Jennifer MacKenzie; Bruno Maranda; Saadet Mercimek-Andrews; Connie Mohan; Aizeddin Mhanni; Grant Mitchell; John J. Mitchell; Laura Nagy; Melanie Napier; Amy Pender; Murray Potter; Chitra Prasad; Suzanne Ratko; Ramona Salvarinova; Andreas Schulze; Komudi Siriwardena; Neal Sondheimer; Rebecca Sparkes; Sylvia Stockler-Ipsiroglu; Yannis Trakadis; Lesley Turner; Clara Van Karnebeek; Hilary Vallance; Anthony Vandersteen; Jagdeep Walia; Ashley Wilson; Brenda J. Wilson; Andrea C. Yu; Nataliya Yuskiv; Pranesh Chakraborty; on behalf of the Canadian Inherited Metabolic Diseases Research Network
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Academic Journal
Ferreira, Carlos R.; Zein, Wadih M.; Huryn, Laryssa A.; Merker, Andrea; Berger, Seth I.; Wilson, William G.; Tiller, George E.; Wolfe, Lynne A.; Merideth, Melissa; Carvalho, Daniel R.; Duker, Angela L.; Bratke, Heiko; Haug, Marte Gjøl; Rohena, Luis; Hove, Hanne B.; Xia, Zhi-Jie; Ng, Bobby G.; Freeze, Hudson H.; Gabriel, Melissa; Russi, Alvaro H. Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L.; Tham, Emma; Nishimura, Gen; Phillips, III, John A.; Gahl, William A.; Hamid, Rizwan; Jackson, Andrew P.; Grigelioniene, Giedre; Bober, Michael B.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(5):857-866
Academic Journal
Perenthaler, Elena; Nikoncuk, Anita; Yousefi, Soheil; Berdowski, Woutje M.; Alsagob, Maysoon; Capo, Ivan; van der Linde, Herma C.; van den Berg, Paul; Jacobs, Edwin H.; Putar, Darija; Ghazvini, Mehrnaz; Aronica, Eleonora; van IJcken, Wilfred F. J.; de Valk, Walter G.; Medici-van den Herik, Evita; van Slegtenhorst, Marjon; Brick, Lauren; Kozenko, Mariya; Kohler, Jennefer N.; Bernstein, Jonathan A.; Monaghan, Kristin G.; Begtrup, Amber; Torene, Rebecca; Al Futaisi, Amna; Al Murshedi, Fathiya; Mani, Renjith; Al Azri, Faisal; Kamsteeg, Erik-Jan; Mojarrad, Majid; Eslahi, Atieh; Khazaei, Zaynab; Darmiyan, Fateme Massinaei; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Vandrovcova, Jana; Zafar, Faisal; Rana, Nuzhat; Kandaswamy, Krishna K.; Hertecant, Jozef; Bauer, Peter; AlMuhaizea, Mohammed A.; Salih, Mustafa A.; Aldosary, Mazhor; Almass, Rawan; Al-Quait, Laila; Qubbaj, Wafa; Coskun, Serdar; Alahmadi, Khaled O.; Hamad, Muddathir H. A.; Alwadaee, Salem; Awartani, Khalid; Dababo, Anas M.; Almohanna, Futwan; Colak, Dilek; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Gunel, Murat; Ercan-Sencicek, A. Gulhan; Passi, Gouri Rao; Cheema, Huma Arshad; Efthymiou, Stephanie; Houlden, Henry; Bertoli-Avella, Aida M.; Brooks, Alice S.; Retterer, Kyle; Maroofian, Reza; Kaya, Namik; van Ham, Tjakko J.; Barakat, Tahsin Stefan
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 139(3):415-442
Academic Journal
Susan M Hiatt; Matthew B Neu; Ryne C Ramaker; Andrew A Hardigan; Jeremy W Prokop; Miroslava Hancarova; Darina Prchalova; Marketa Havlovicova; Jan Prchal; Viktor Stranecky; Dwight K C Yim; Zöe Powis; Boris Keren; Caroline Nava; Cyril Mignot; Marlene Rio; Anya Revah-Politi; Parisa Hemati; Nicholas Stong; Alejandro D Iglesias; Sharon F Suchy; Rebecca Willaert; Ingrid M Wentzensen; Patricia G Wheeler; Lauren Brick; Mariya Kozenko; Anna C E Hurst; James W Wheless; Yves Lacassie; Richard M Myers; Gregory S Barsh; Zdenek Sedlacek; Gregory M Cooper
PLoS Genetics, Vol 14, Iss 11, p e1007671 (2018)
Academic Journal
Tingley, Kylie; Lamoureux, Monica; Pugliese, Michael; Geraghty, Michael T.; Kronick, Jonathan B.; Potter, Beth K.; Coyle, Doug; Wilson, Kumanan; Kowalski, Michael; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Chan, Alicia K. J.; Dyack, Sarah; Feigenbaum, Annette; Giezen, Alette; Goobie, Sharan; Greenberg, Cheryl R.; Ghai, Shailly Jain; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mohan, Connie; Mhanni, Aizeddin; Mitchell, Grant; Mitchell, John J.; Nagy, Laura; Napier, Melanie; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vallance, Hilary; Vandersteen, Anthony; Walia, Jagdeep; Wilson, Ashley; Wilson, Brenda J.; Yu, Andrea C.; Yuskiv, Nataliya; Chakraborty, Pranesh
Orphanet Journal of Rare Diseases. April 10, 2020, Vol. 15 Issue 1
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