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Author/Creator Kadir, Rotem

1. Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe. Issue 12 (4th December 2018)

Authors:
Wormser, Ohad; Gradstein, Libe; Kadar, Einat; Yogev, Yuval; Perez, Yonatan; Mashkit, Elena; Elbedour, Khalil; Drabkin, Max; Markus, Barak; Kadir, Rotem; Halperin, Daniel; Khalaila, Soltan; Levy, Jaime; Lifshitz, Tova; Manor, Esther; Birk, Ohad S.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 12(2018)
Page Start:
2695
Record Type:
Journal Article
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2. CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. (10th September 2015)

Authors:
Volodarsky, Michael; Lichtig, Hava; Leibson, Tom; Sadaka, Yair; Kadir, Rotem; Perez, Yonatan; Liani-Leibson, Keren; Gradstein, Libe; Shaco-Levy, Ruthy; Shorer, Zamir; Frank, Dale; Birk, Ohad S.
Journal:
Human molecular genetics
Issue:
Volume 24:Number 22(2015:Nov. 15)
Page Start:
6485
Record Type:
Journal Article
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3. SEC31A mutation affects ER homeostasis, causing a neurological syndrome. Issue 3 (21st November 2018)

Authors:
Halperin, Daniel; Kadir, Rotem; Perez, Yonatan; Drabkin, Max; Yogev, Yuval; Wormser, Ohad; Berman, Erez M; Eremenko, Ekaterina; Rotblat, Barak; Shorer, Zamir; Gradstein, Libe; Shelef, Ilan; Birk, Ruth; Abdu, Uri; Flusser, Hagit; Birk, Ohad S
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 3(2019)
Page Start:
139
Record Type:
Journal Article
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4. UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. Issue 6 (6th November 2015)

Authors:
Perez, Yonatan; Kadir, Rotem; Volodarsky, Michael; Noyman, Iris; Flusser, Hagit; Shorer, Zamir; Gradstein, Libe; Birnbaum, Ramon Y; Birk, Ohad S
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 6(2016)
Page Start:
397
Record Type:
Journal Article
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5. VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). Issue 5 (27th February 2014)

Authors:
Feinstein, Miora; Flusser, Hagit; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Lev, Dorit; Agamy, Orly; Cohen, Idan; Kadir, Rotem; Sivan, Sara; Leshinsky-Silver, Esther; Markus, Barak; Birk, Ohad S
Journal:
Journal of medical genetics
Issue:
Volume 51:Issue 5(2014)
Page Start:
303
Record Type:
Journal Article
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7. Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel. (November 2018)

Authors:
Drabkin, Max; Zilberberg, Noam; Menahem, Sasson; Mulla, Wesam; Halperin, Daniel; Yogev, Yuval; Wormser, Ohad; Perez, Yonatan; Kadir, Rotem; Etzion, Yoram; Katz, Amos; Birk, Ohad S.
Journal:
Circulation
Issue:
Volume 11:Number 11(2018)
Page Start:
Record Type:
Journal Article
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