Author/Creator: Michelson, Marina - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Michelson, Marina

1. Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum. (August 2019)

Authors:: Hady-Cohen, Ronen; Maharshak, Idit; Michelson, Marina; Yosovich, Keren; Lev, Dorit; Constantini, Shlomi; Leiba, Hana; Lerman-Sagie, Tally; Blumkin, Lubov
Journal:: Journal of child neurology
Issue:: Volume 34:Number 9(2019:Sep.)
Page Start:: 506
Record Type:: Journal Article
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2. Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A. Issue 12 (8th October 2022)

Authors:: Pavlova, Elena V.; Lev, Dorit; Michelson, Marina; Yosovich, Keren; Michaeli, Hila Gur; Bright, Nicholas A.; Manna, Paul T.; Dickson, Veronica Kane; Tylee, Karen L.; Church, Heather J.; Luzio, J. Paul; Cox, Timothy M.
Journal:: Human mutation
Issue:: Volume 43:Issue 12(2022)
Page Start:: 2265
Record Type:: Journal Article
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3. Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder. Issue 7 (21st March 2022)

Authors:: Michelson, Marina; Lidzbarsky, Gabriel; Nishri, Daniella; Israel‐Elgali, Ifat; Berger, Rachel; Gafner, Michal; Shomron, Noam; Lev, Dorit; Goldberg, Yael
Journal:: American journal of medical genetics
Issue:: Volume 188:Issue 7(2022)
Page Start:: 1990
Record Type:: Journal Article
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4. Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder. (July 2015)

Authors:: Blumkin, Lubov; Bradshaw, Teisha; Michelson, Marina; Kopler, Tal; Dahari, Dvir; Lerman-Sagie, Tally; Lev, Dorit; Chapple, J. Paul; Leshinsky-Silver, Esther
Journal:: European journal of paediatric neurology
Issue:: Volume 19:Number 4(2015:Jul.)
Page Start:: 472
Record Type:: Journal Article
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5. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. (May 2015)

Authors:: Blumkin, Lubov; Leshinsky-Silver, Esther; Michelson, Marina; Zerem, Ayelet; Kivity, Sara; Lev, Dorit; Lerman-Sagie, Tally
Journal:: European journal of paediatric neurology
Issue:: Volume 19:Number 3(2015:May)
Page Start:: 292
Record Type:: Journal Article
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