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Author/Creator Zaki, Maha S

1. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. Issue 1 (16th June 2017)

Authors:
Marin-Valencia, Isaac; Novarino, Gaia; Johansen, Anide; Rosti, Basak; Issa, Mahmoud Y; Musaev, Damir; Bhat, Gifty; Scott, Eric; Silhavy, Jennifer L; Stanley, Valentina; Rosti, Rasim O; Gleeson, Jeremy W; Imam, Farhad B; Zaki, Maha S; Gleeson, Joseph G
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 1(2018)
Page Start:
48
Record Type:
Journal Article
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2. Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy. Issue 7 (27th July 2020)

Authors:
Maroofian, Reza; Sedmík, Jiří; Mazaheri, Neda; Scala, Marcello; Zaki, Maha S; Keegan, Liam P; Azizimalamiri, Reza; Issa, Mahmoud; Shariati, Gholamreza; Sedaghat, Alireza; Beetz, Christian; Bauer, Peter; Galehdari, Hamid; O'Connell, Mary A; Houlden, Henry
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 7(2021)
Page Start:
495
Record Type:
Journal Article
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3. Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course. Issue 3 (3rd September 2021)

Authors:
Maroofian, Reza; Gubas, Andrea; Kaiyrzhanov, Rauan; Scala, Marcello; Hundallah, Khalid; Severino, Mariasavina; Abdel-Hamid, Mohamed S; Rosenfeld, Jill A; Ebrahimi-Fakhari, Darius; Ali, Zahir; Rahim, Fazal; Houlden, Henry; Tooze, Sharon A; Alsaleh, Norah S; Zaki, Maha S
Journal:
Brain communications
Issue:
Volume 3:Issue 3(2021)
Page Start:
Record Type:
Journal Article
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4. Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. Issue 12 (10th November 2020)

Authors:
De Nittis, Pasquelena; Efthymiou, Stephanie; Sarre, Alexandre; Guex, Nicolas; Chrast, Jacqueline; Putoux, Audrey; Sultan, Tipu; Raza Alvi, Javeria; ur Rahman, Zia; Zafar, Faisal; Rana, Nuzhat; Rahman, Fatima; Anwar, Najwa; Maqbool, Shazia; Zaki, Maha S; Gleeson, Joseph G; Murphy, David; Galehdari...
Other Names:
author non-byline.; Groppa Stanislav author non-byline.; Karashova Blagovesta Marinova author non-byline.; Nachbauer Wolfgang author non-byline.; Boesch Sylvia author non-byline.; Arning Larissa author non-byline.; Timmann Dagmar author non-byline.; Cormand Bru author non-byline.; Pérez-Dueñas B...
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 12(2021)
Page Start:
815
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗