학술논문
'학술논문'
에서 검색결과 6건 | 목록
1~10
Academic Journal
Humbert, Jonathan; Salian, Smrithi; Makrythanasis, Periklis; Lemire, Gabrielle; Rousseau, Justine; Ehresmann, Sophie; Garcia, Thomas; Alasiri, Rami; Bottani, Armand; Hanquinet, Sylviane; Beaver, Erin; Heeley, Jennifer; Smith, Ann C.M.; Berger, Seth I.; Antonarakis, Stylianos E.; Yang, Xiang-Jiao; Côté, Jacques; Campeau, Philippe M.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Academic Journal
Pilarowski, Genay O.; Vernon, Hilary J.; Applegate, Carolyn D.; Boukas, Leandros; Cho, Megan T.; Gurnett, Christina A.; Benke, Paul J.; Beaver, Erin; Heeley, Jennifer M.; Medne, Livija; Krantz, Ian D.; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B.; Wentzensen, Ingrid M.; Baskin, Berivan; Sacoto, Maria J. Guillen; Bowman, Gregory D.; Bjornsson, Hans T.
Journal of Medical Genetics; Aug2018, Vol. 55 Issue 8, p561-566, 6p
Academic Journal
White, Janson J.; Mazzeu, Juliana F.; Coban-Akdemir, Zeynep; Bayram, Yavuz; Bahrambeigi, Vahid; Hoischen, Alexander; van Bon, Bregje W.M.; Gezdirici, Alper; Gulec, Elif Yilmaz; Ramond, Francis; Touraine, Renaud; Thevenon, Julien; Shinawi, Marwan; Beaver, Erin; Heeley, Jennifer; Hoover-Fong, Julie; Durmaz, Ceren D.; Karabulut, Halil Gurhan; Marzioglu-Ozdemir, Ebru; Cayir, Atilla
Academic Journal
Torene, Rebecca I.; Galens, Kevin; Liu, Shuxi; Arvai, Kevin; Borroto, Carlos; Scuffins, Julie; Zhang, Zhancheng; Friedman, Bethany; Sroka, Hana; Heeley, Jennifer; Beaver, Erin; Clarke, Lorne; Neil, Sarah; Walia, Jagdeep; Hull, Danna; Juusola, Jane; Retterer, Kyle
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(5):974-978
Periodical
Pilarowski, Genay O; Vernon, Hilary J; Applegate, Carolyn D; Boukas, Leandros; Cho, Megan T; Gurnett, Christina A; Benke, Paul J; Beaver, Erin; Heeley, Jennifer M; Medne, Livija; Krantz, Ian D; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B; Wentzensen, Ingrid M; Baskin, Berivan; Sacoto, Maria J Guillen; Bowman, Gregory D; Bjornsson, Hans T
Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 8 p561-566, 6p
Academic Journal
Lemire, Gabrielle; Alasiri, Rami; Bottani, Armand; Makrythanasis, Periklis; Beaver, Erin; Heeley, Jennifer; Smith, Ann; Berger, Seth; Rousseau, Justine; Antonarakis, Stylianos; Yang, Xiang-Jiao; Campeau, Philippe M.
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[AR] Beaver, Erin
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