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De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27.
Am J Hum Genet. 2019.
PMID: 30595372
Free PMC article.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Schwoerer JS, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM.
Reynhout S, et al. Among authors: tziperman b.
Am J Hum Genet. 2019 Feb 7;104(2):357. doi: 10.1016/j.ajhg.2019.01.003.
Am J Hum Genet. 2019.
PMID: 30735662
Free PMC article.
No abstract available.
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Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N.
Saitsu H, et al. Among authors: tziperman b.
Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13.
Eur J Hum Genet. 2016.
PMID: 25966631
Free PMC article.
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Adding video recording increases the diagnostic yield of routine electroencephalograms in children with frequent paroxysmal events.
Watemberg N, Tziperman B, Dabby R, Hasan M, Zehavi L, Lerman-Sagie T.
Watemberg N, et al. Among authors: tziperman b.
Epilepsia. 2005 May;46(5):716-9. doi: 10.1111/j.1528-1167.2005.50004.x.
Epilepsia. 2005.
PMID: 15857438
Free article.
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Acute intermittent porphyria, Rasmussen encephalitis, or both?
Tziperman B, Garty BZ, Schoenfeld N, Hoffer V, Watemberg N, Lev D, Ganor Y, Levite M, Lerman-Sagie T.
Tziperman B, et al.
J Child Neurol. 2007 Jan;22(1):99-105. doi: 10.1177/0883073807299962.
J Child Neurol. 2007.
PMID: 17608316
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