> Details
Mao, Dongxue;
Reuter, Chloe M.;
Ruzhnikov, Maura R.Z.;
Beck, Anita E.;
Farrow, Emily G.;
Emrick, Lisa T.;
Rosenfeld, Jill A.;
Mackenzie, Katherine M.;
Robak, Laurie;
Wheeler, Matthew T.;
Burrage, Lindsay C.;
Jain, Mahim;
Liu, Pengfei;
Calame, Daniel;
Küry, Sébastien;
Sillesen, Martin;
Schmitz-Abe, Klaus;
Tonduti, Davide;
Spaccini, Luigina;
Iascone, Maria;
Genetti, Casie A.;
Koenig, Mary K.;
Graf, Madeline;
Tran, Alyssa;
[...]
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
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- Media type: E-Article
- Title: De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
- Contributor: Mao, Dongxue; Reuter, Chloe M.; Ruzhnikov, Maura R.Z.; Beck, Anita E.; Farrow, Emily G.; Emrick, Lisa T.; Rosenfeld, Jill A.; Mackenzie, Katherine M.; Robak, Laurie; Wheeler, Matthew T.; Burrage, Lindsay C.; Jain, Mahim; Liu, Pengfei; Calame, Daniel; Küry, Sébastien; Sillesen, Martin; Schmitz-Abe, Klaus; Tonduti, Davide; Spaccini, Luigina; Iascone, Maria; Genetti, Casie A.; Koenig, Mary K.; Graf, Madeline; Tran, Alyssa; [...]
- imprint: Elsevier BV, 2020
- Published in: The American Journal of Human Genetics
- Language: English
- DOI: 10.1016/j.ajhg.2020.02.016
- ISSN: 0002-9297
- Keywords: Genetics (clinical) ; Genetics
- Origination:
- Footnote:
- Access State: Open Access