Zobrazeno 1 - 10
of 1 377
pro vyhledávání: '"Neurogenetic disease"'
Autor:
Heald, Christopher J., Sarma, Asha, Sachs, Jeffrey R., Zapadka, Michael E., Jewett, Tamison, Bunch, Paul M.
Publikováno v:
In Academic Radiology March 2022 29 Supplement 3:S1-S27
Autor:
Stevens, Hannah A., Fogel, Brent L.
Publikováno v:
In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:75-86
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Emily M. Spelbrink, Tanya L. Brown, Elise Brimble, Kirsten A. Blanco, Kimberly L. Nye, Brenda E. Porter
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: SLC13A5 citrate transporter disorder is a rare autosomal recessive genetic disease that has a constellation of neurologic symptoms. To better characterize the neurologic and clinical laboratory phenotype, we utilized patient medical rec
Externí odkaz:
https://doaj.org/article/f377deb466ff4b808940718c42dfbf9a
Autor:
Issa, Mahmoud Y.1 (AUTHOR), Chechlacz, Zinayida2 (AUTHOR), Stanley, Valentina2 (AUTHOR), George, Renee D.2 (AUTHOR), McEvoy-Venneri, Jennifer2 (AUTHOR), Belandres, Denice2 (AUTHOR), Elbendary, Hasnaa M.1 (AUTHOR), Gaber, Khaled R.3 (AUTHOR), Nabil, Ahmed3 (AUTHOR), Abdel-Hamid, Mohamed S.4 (AUTHOR), Zaki, Maha S.1 (AUTHOR) dr_mahazaki@yahoo.com, Gleeson, Joseph G.2 (AUTHOR) jogleeson@ucsd.edu
Publikováno v:
BMC Medical Genomics. 5/13/2020, Vol. 13 Issue 1, p1-10. 10p.
Autor:
Mahmoud Y. Issa, Zinayida Chechlacz, Valentina Stanley, Renee D. George, Jennifer McEvoy-Venneri, Denice Belandres, Hasnaa M. Elbendary, Khaled R. Gaber, Ahmed Nabil, Mohamed S. Abdel-Hamid, Maha S. Zaki, Joseph G. Gleeson
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-10 (2020)
Abstract Background The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this
Externí odkaz:
https://doaj.org/article/c927f7fd510d42f7a263eb0cd28920c0
Autor:
Worman, Howard J., Dauer, William T.
Publikováno v:
In Neurotherapeutics October 2014 11(4):764-772
Autor:
C. Raymond Lake
Publikováno v:
Bipolar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f57c7ac80b564640a564224a4112d858
https://doi.org/10.1016/b978-0-12-819256-6.00004-3
https://doi.org/10.1016/b978-0-12-819256-6.00004-3