Výsledky vyhledávání - "Blok, Laura E.R."

Akademický článek

Habituation Learning Is a Widely Affected Mechanism in Drosophila Models of Intellectual Disability and Autism Spectrum Disorders

Autor: Fenckova, Michaela, Blok, Laura E.R., Asztalos, Lenke, Goodman, David P., Cizek, Pavel, Singgih, Euginia L., Glennon, Jeffrey C., IntHout, Joanna, Zweier, Christiane, Eichler, Evan E., von Reyn, Catherine R., Bernier, Raphael A., Asztalos, Zoltan, Schenck, Annette

Publikováno v: In Biological Psychiatry 15 August 2019 86(4):294-305

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Periodical

De Novo ZMYND8variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Autor: Dias, Kerith-Rae, Carlston, Colleen M., Blok, Laura E.R., De Hayr, Lachlan, Nawaz, Urwah, Evans, Carey-Anne, Bayrak-Toydemir, Pinar, Htun, Stephanie, Zhu, Ying, Ma, Alan, Lynch, Sally Ann, Moorwood, Catherine, Stals, Karen, Ellard, Sian, Bainbridge, Matthew N., Friedman, Jennifer, Pappas, John G., Rabin, Rachel, Nowak, Catherine B., Douglas, Jessica, Wilson, Theodore E., Guillen Sacoto, Maria J., Mullegama, Sureni V., Palculict, Timothy Blake, Kirk, Edwin P., Pinner, Jason R., Edwards, Matthew, Montanari, Francesca, Graziano, Claudio, Pippucci, Tommaso, Dingmann, Bri, Glass, Ian, Mefford, Heather C., Shimoji, Takeyoshi, Suzuki, Toshimitsu, Yamakawa, Kazuhiro, Streff, Haley, Schaaf, Christian P., Slavotinek, Anne M., Voineagu, Irina, Carey, John C., Buckley, Michael F., Schenck, Annette, Harvey, Robert J., Roscioli, Tony

Publikováno v: Genetics in Medicine; September 2022, Vol. 24 Issue: 9 p1952-1966, 15p

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Akademický článek

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

Autor: Stephenson, Sarah E.M.^1,2 (AUTHOR), Costain, Gregory^3,4,5 (AUTHOR), Blok, Laura E.R.⁶ (AUTHOR), Silk, Michael A.^7,8,9 (AUTHOR), Nguyen, Thanh Binh^7,8,9 (AUTHOR), Dong, Xiaomin¹ (AUTHOR), Alhuzaimi, Dana E.¹ (AUTHOR), Dowling, James J.^4,10 (AUTHOR), Walker, Susan^4,11 (AUTHOR), Amburgey, Kimberly^5,10 (AUTHOR), Hayeems, Robin Z.^12,13 (AUTHOR), Rodan, Lance H.^14,15 (AUTHOR), Schwartz, Marc A.^16,17,18,19 (AUTHOR), Picker, Jonathan^14,20 (AUTHOR), Lynch, Sally A.²¹ (AUTHOR), Gupta, Aditi^22,23 (AUTHOR), Rasmussen, Kristen J.²⁴ (AUTHOR), Schimmenti, Lisa A.^25,26,27 (AUTHOR), Klee, Eric W.^22,23,24,25 (AUTHOR), Niu, Zhiyv^24,25 (AUTHOR)

Publikováno v: American Journal of Human Genetics. Apr2022, Vol. 109 Issue 4, p601-617. 17p.

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