학술논문
'학술논문'
에서 검색결과 31건 | 목록
1~10
Academic Journal
In European Journal of Medical Genetics January 2023 66(1)
Academic Journal
Bradbrook, Sam; Graham, Gail; Carter, Melissa; Kibaek, Maria; Larsen, Martin; Fagerberg, Christina; Dawson, Katherine; Meuter, Cheryl; Pepler, Alexander; Besnard, Thomas; Isidor, Bertrand; Bezieau, Stéphane; Cogné, Benjamin; Vincent, Marie; Bjorgo, Katherine; Courtin, Thomas; Emrick, Lisa; Rosenfeld, Jill; Network, Undiagnosed Diseases; Martinez-Agosto, Julian; Heulin, Mathilde; Morin, Gilles; Monin, Pauline; Januel, Louis; Bonnet-Dupeyron, Marie-Noëlle; Pujalte, Mathilde; Worley, Kim; Weisz-Hubshman, Monika; Dickson, Patricia; Thompson, Michelle; Marcadier, Julien
In Genetics in Medicine Open 2024 2 Supplement 1
Academic Journal
Fewings, Eleanor; Ziemer, Mirjana; Hörtnagel, Konstanze; Reicherter, Kerstin; Larionov, Alexey; Redman, James; Goldgraben, Mae A.; Pepler, Alexander; Hearn, Tim; Firth, Helen; Ha, Tom; Schaller, Jörg; Adams, David J.; Rytina, Ed; van Steensel, Maurice; Tischkowitz, Marc
In Journal of Investigative Dermatology October 2019 139(10):2238-2241
Academic Journal
Sandestig, anna; Engström, Karolina; Pepler, alexander; Danielsson, Ingela; Odelberg-Johnsson, Per; Biskup, Saskia; Holz, anja; Stefanova, Margarita
Molecular Syndromology; 2019, Vol. 10 Issue 6, p313-319, 7p
Periodical
Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; Wang, Hua; Zhang, Hainan; Perry, Denise L; Ferrarini, Alessandra; Colombo, Roberto; Pepler, Alexander; Schneider, Adele; Tomiwa, Kiyotaka; Okamoto, Nobuhiko; Matsumoto, Naomichi; Miyake, Noriko; Taft, Ryan; Mao, Xiao; Bonneau, Dominique
Journal of Medical Genetics (JMG); 2021, Vol. 58 Issue: 10 p712-716, 5p
Academic Journal
Zagaglia, Sara; Selch, Christina; Nisevic, Jelena Radic; Mei, Davide; Michalak, Zuzanna; Hernandez-Hernandez, Laura; Krithika, S.; Vezyroglou, Katharina; Varadkar, Sophia M.; Pepler, Alexander; Biskup, Saskia; Leão, Miguel; Gärtner, Jutta; Merkenschlager, Andreas; Jaksch, Michaela; Møller, Rikke S.; Gardella, Elena; Kristiansen, Britta Schlott; Hansen, Lars Kjærsgaard; Vari, Maria Stella; Helbig, Katherine L.; Desai, Sonal; Smith-Hicks, Constance L.; Hino-Fukuyo, Naomi; Talvik, Tiina; Laugesaar, Rael; Ilves, Pilvi; Õunap, Katrin; Körber, Ingrid; Hartlieb, Till; Kudernatsch, Manfred; Winkler, Peter; Schimmel, Mareike; Hasse, Anette; Knuf, Markus; Heinemeyer, Jan; Makowski, Christine; Ghedia, Sondhya; Subramanian, Gopinath M.; Striano, Pasquale; Thomas, Rhys H.; Micallef, Caroline; Thom, Maria; Werring, David J.; Kluger, Gerhard Josef; Cross, J. Helen; Guerrini, Renzo; Balestrini, Simona; Sisodiya, Sanjay M.
Neurology. Nov 09, 2018
Academic Journal
Tessadori, Federico; Duran, Karen; Knapp, Karen; Fellner, Matthias; Smithson, Sarah; Meireles, Ana Beleza; Elting, Mariet W.; Waisfisz, Quinten; O'Donnell-Luria, Anne; Nowak, Catherine; Douglas, Jessica; Ronan, Anne; Brunet, Theresa; Kotzaeridou, Urania; Svihovec, Shayna; Saenz, Margarita S.; Thiffault, Isabelle; Del Viso, Florencia; Devine, Patrick; Rego, Shannon; Tenney, Jessica; van Haeringen, Arie; Ruivenkamp, Claudia A. L.; Koene, Saskia; Robertson, Stephen P.; Deshpande, Charulata; Pfundt, Rolph; Verbeek, Nienke; van de Kamp, Jiddeke M.; Weiss, Janneke M. M.; Ruiz, Anna; Gabau, Elisabeth; Banne, Ehud; Pepler, Alexander; Bottani, Armand; Laurent, Sacha; Guipponi, Michel; Bijlsma, Emilia; Bruel, Ange-Line; Sorlin, Arthur; Willis, Mary; Powis, Zoe; Smol, Thomas; Vincent-Delorme, Catherine; Baralle, Diana; Colin, Estelle; Revencu, Nicole; Calpena, Eduardo; Wilkie, Andrew O. M.; Chopra, Maya; Cormier-Daire, Valerie; Keren, Boris; Afenjar, Alexandra; Niceta, Marcello; Terracciano, Alessandra; Specchio, Nicola; Tartaglia, Marco; Rio, Marlene; Barcia, Giulia; Rondeau, Sophie; Colson, Cindy; Bakkers, Jeroen; Mace, Peter D.; Bicknell, Louise S.; van Haaften, Gijs
Periodical
Sandestig, Anna; Engström, Karolina; Pepler, Alexander; Danielsson, Ingela; Odelberg-Johnsson, Per; Biskup, Saskia; Holz, Anja; Stefanova, Margarita
Molecular Syndromology; January 2020, Vol. 10 Issue: 6 p313-319, 7p
Academic Journal
Platzer, Konrad; Sticht, Heinrich; Edwards, Stacey L.; Allen, William; Angione, Kaitlin M.; Bonati, Maria T.; Brasington, Campbell; Cho, Megan T.; Demmer, Laurie A.; Falik-Zaccai, Tzipora; Gamble, Candace N.; Hellenbroich, Yorck; Iascone, Maria; Kok, Fernando; Mahida, Sonal; Mandel, Hanna; Marquardt, Thorsten; McWalter, Kirsty; Panis, Bianca; Pepler, Alexander
Sandestig, Anna; Gréen, Anna, 1973; Jonasson, Jon; Vogt, Hartmut; Wahlström, Johan; Pepler, Alexander; Ellnebo, Katarina, 1956; Biskup, Saskia; Stefanova, Margarita
Molecular Syndromology. 9(5):259-265
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[AR] Pepler, Alexander
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