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Author/Creator Musaev, Damir

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. Extending the mutation spectrum for Galloway–Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Issue 4 (5th January 2016)

Authors:
Rosti, Rasim O.; Dikoglu, Esra; Zaki, Maha S.; Abdel‐Salam, Ghada; Makhseed, Nawal; Sese, Jordan C.; Musaev, Damir; Rosti, Basak; Harbert, Mary J.; Jones, Marilyn C.; Vaux, Keith K.; Gleeson, Joseph G.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 4(2016)
Page Start:
992
Record Type:
Journal Article
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3. Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Issue 6 (9th March 2017)

Authors:
Rosti, Rasim Ozgur; Sotak, Bethany N; Bielas, Stephanie L; Bhat, Gifty; Silhavy, Jennifer L; Aslanger, Ayca Dilruba; Altunoglu, Umut; Bilge, Ilmay; Tasdemir, Mehmet; Yzaguirrem, Amanda D; Musaev, Damir; Infante, Sofia; Thuong, Whitney; Marin-Valencia, Isaac; Nelson, Stanley F; Kayserili, Hulya; G...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 6(2017)
Page Start:
399
Record Type:
Journal Article
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4. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Issue 5 (4th October 2018)

Authors:
Guemez‐Gamboa, Alicia; Çağlayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy‐Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Iss...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
638
Record Type:
Journal Article
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5. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018)

Authors:
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ...
Journal:
EMBO journal
Issue:
Volume 37:Number 23(2018)
Page Start:
n/a
Record Type:
Journal Article
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6. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Issue 9 (6th May 2016)

Authors:
Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Tru...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 9(2016)
Page Start:
608
Record Type:
Journal Article
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