학술논문
'학술논문'
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1~10
Academic Journal
Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gásdal; Gene‑Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger‑Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schönewolf‑Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Revencu, Nicole; Eijkelenboom, Astrid; Bracquemart, Claire; Alhopuro, Pia; Armstrong, Judith; Baselga, Eulalia; Cesario, Claudia; Dentici, Maria Lisa; Eyries, Melanie; Frisk, Sofia; Karstensen, Helena Gásdal; Gene-Olaciregui, Nagore; Kivirikko, Sirpa; Lavarino, Cinzia; Mero, Inger-Lise; Michiels, Rodolphe; Pisaneschi, Elisa; Schönewolf-Greulich, Bitten; Wieland, Ilse; Zenker, Martin; Vikkula, Miikka
Orphanet Journal of Rare Diseases. 19(1)
Academic Journal
Nicole Revencu; Astrid Eijkelenboom; Claire Bracquemart; Pia Alhopuro; Judith Armstrong; Eulalia Baselga; Claudia Cesario; Maria Lisa Dentici; Melanie Eyries; Sofia Frisk; Helena Gásdal Karstensen; Nagore Gene-Olaciregui; Sirpa Kivirikko; Cinzia Lavarino; Inger-Lise Mero; Rodolphe Michiels; Elisa Pisaneschi; Bitten Schönewolf-Greulich; Ilse Wieland; Martin Zenker; Miikka Vikkula
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Academic Journal
Nicole Revencu; Astrid Eijkelenboom; Claire Bracquemart; Pia Alhopuro; Judith Armstrong; Eulalia Baselga; Claudia Cesario; Maria Lisa Dentici; Melanie Eyries; Sofia Frisk; Helena Gásdal Karstensen; Nagore Gene‑Olaciregui; Sirpa Kivirikko; Cinzia Lavarino; Inger‑Lise Mero; Rodolphe Michiels; Elisa Pisaneschi; Bitten Schönewolf‑Greulich; Ilse Wieland; Martin Zenker; Miikka Vikkula
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-2 (2024)
Academic Journal
Lildballe, Dorte L.; Frederiksen, Anja Lisbeth; Schönewolf-Greulich, Bitten; Brasch-Andersen, Charlotte; Lautrup, Charlotte Kvist; Karstensen, Helena Gásdal; Pedersen, Inge Søkilde; Sunde, Lone; Risom, Lotte; Rasmussen, Maria; Bertelsen, Mette; Andersen, Mette Klarskov; Rendtorff, Nanna Dahl; Gregersen, Pernille Axél; Tørring, Pernille M.; Hammer-Hansen, Sophia; Boonen, Susanne E.; Lindquist, Suzanne Granhøj; Hammer, Trine Bjørg; Diness, Birgitte R.
European Journal of Medical Genetics. 66(12)
Academic Journal
Schönewolf-Greulich, Bitten; Karstensen, Helena Gásdal; Hjortshøj, Tina D.; Jørgensen, Finn Stener; Harder, Katja M.; Frevert, Susanne; Hove, Hanne; Diness, Birgitte R.
In European Journal of Medical Genetics October 2022 65(10)
Academic Journal
Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A.; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogné, Benjamin; Coubes, Christine; de Man, Stella A.; Denommé-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Müller, Amelie J.; O’Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlüter, Agatha; Schönewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmée; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmüller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gómez-Puertas, Paulino; Pujol, Aurora; Tümer, Zeynep
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(5):888-899
Academic Journal
Huang, Lijia; Vanstone, Megan R; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A; Dipple, Katrina M; Dobyns, William B; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P; Goel, Himanshu; Gregersen, Pernille A; Gripp, Karen W; Grix, Art; Guion‐Almeida, Maria‐Leine; Harr, Margaret H; Hudson, Cindy; Hunter, Alasdair GW; Johnson, John; Joss, Shelagh K; Kimball, Amy; Kini, Usha; Kline, Antonie D; Lauzon, Julie; Lildballe, Dorte L; López‐González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M; Morel, Chantal F; Morton, Jenny EV; Pyle, Louise C; Quintero‐Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E; Schönewolf‐Greulich, Bitten; Shears, Deborah J; Silver, Josh; Smith, Amanda C; Temple, I Karen; Center, UCLA Clinical Genomics; de Kamp, Jiddeke M; Dijk, Fleur S; Vandersteen, Anthony M; White, Sue M; Zackai, Elaine H; Zou, Ruobing; Consortium, Care4Rare Canada; Bulman, Dennis E; Boycott, Kym M; Lines, Matthew A
Human Mutation. 37(2)
Academic Journal
Victoria A. Bjerregaard; Bitten Schönewolf-Greulich; Lene Juel Rasmussen; Claus Desler; Zeynep Tümer
Frontiers in Neurology, Vol 11 (2020)
Academic Journal
Rosengren, Thomas; Nanhoe, Santoesha; de Almeida, Luis Gustavo Dufner; Schönewolf-Greulich, Bitten; Larsen, Lasse Jonsgaard; Hey, Caroline Amalie Brunbjerg; Dunø, Morten; Ek, Jakob; Risom, Lotte; Nellist, Mark; Møller, Lisbeth Birk
Scientific Reports. 10(1)
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