Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Sanchez Russo, Rossana"'
Autor:
Pollak, Rebecca M., Tilmon, Jacob C., Murphy, Melissa M., Gambello, Michael J., Sanchez Russo, Rossana, Dormans, John P., Mulle, Jennifer G.
Publikováno v:
American Journal of Medical Genetics. Part A; Nov2023, Vol. 191 Issue 11, p2749-2756, 8p
Autor:
Salpeter, Elyse M, Leonard, Brian C, Lopez, Antonio J, Murphy, Christopher J, Thomasy, Sara, Imai, Denise M, Grimsrud, Kristin, Lloyd, KC Kent, Yan, Jiong, Sanchez Russo, Rossana, Shankar, Suma P, Moshiri, Ala
Publikováno v:
Annals of translational medicine, vol 9, iss 15
BackgroundCeroid lipofuscinosis type 8 belongs to a heterogenous group of vision and life-threatening neurodegenerative diseases, neuronal ceroid lipofuscinosis (NCL). Effective therapy is limited to a single drug for treatment of ceroid lipofuscinos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::7c45606a693e04a6b3624927e4615357
https://escholarship.org/uc/item/6x24359h
https://escholarship.org/uc/item/6x24359h
Autor:
Sanchez Russo, Rossana, Gambello, Michael J, Murphy, Melissa M, Aberizk, Katrina, Black, Emily, Burrell, T Lindsey, Carlock, Grace, Cubells, Joseph F, Epstein, Michael T, Espana, Roberto, Goines, Katrina, Guest, Ryan M, Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J, Li, Longchuan, Novacek, Derek M, Saulnier, Celine A, Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Emory 3q29 Project, Mulle, Jennifer Gladys
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 5
PurposeTo understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using thes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::014b8ab8457b908d6b770bcc3b49b273
https://escholarship.org/uc/item/409646r1
https://escholarship.org/uc/item/409646r1
Publikováno v:
In Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Edition: Seventh Edition. 2021:49-104
Akademický článek
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Autor:
Wade, Emma M., Jenkins, Zandra A., Morgan, Tim, Gimenez, Gregory, Gibson, Hayley, Peng, Hui, Sanchez Russo, Rossana, Skraban, Cara M., Bedoukian, Emma, Robertson, Stephen P.
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3675-3682, 8p
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Mak, Bryan C., Sanchez Russo, Rossana, Gambello, Michael J., Fleischer, Nicole, Black, Emily D., Leslie, Elizabeth, Murphy, Melissa M., Mulle, Jennifer Gladys
Publikováno v:
American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2094-2101, 8p
Autor:
Murphy, Melissa M., Burrell, T. Lindsey, Cubells, Joseph F., España, Roberto Antonio, Gambello, Michael J., Goines, Katrina C. B., Klaiman, Cheryl, Li, Longchuan, Novacek, Derek M., Papetti, Ava, Sanchez Russo, Rossana Lucia, Saulnier, Celine A., Shultz, Sarah, Walker, Elaine, Mulle, Jennifer Gladys
Publikováno v:
BMC Psychiatry; 6/8/2018, Vol. 18 Issue 1, p1-10, 10p, 1 Diagram, 1 Chart
Autor:
Ali, Omar, Anderson, Karl E., Balwani, Manisha, Berry, Gerard T., Chang, Irene J., Chen, Yuan-Tsong, Desnick, Robert J., Donohoue, Patricia A., Falk, Marni J., Finberg, Karin E., Freeze, Hudson H., Ganetzky, Rebecca D., Garg, Abhimanyu, Ginzburg, Yelena Z., Giugliani, Roberto, Hegele, Robert A., Hennekam, Raoul C.M., Jinnah, H.A., Kaler, Stephen G., Kamatani, Naoyuki, Kansra, Alvina, Kishnani, Priya S., Lam, Christina, Levine, Michael A., Ng, Bobby G., Sanchez Russo, Rossana L., Streeten, Elizabeth A., Sun, Angela, van Kuilenburg, André B.P., Vockley, Jerry, Wanders, Ronald J.A., Waterham, Hans R., Wilcox, William R., Wolfe, Lynne A.
Publikováno v:
In Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics Edition: Seventh Edition. 2021:ix-x