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Blumkin, Lubov
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1

Home-video EEG monitoring in a pediatric setting:

Michaeli, Yael ; Blumkin, Lubov ; Medvedovsky, Mordekhay..
Heliyon.  , 2024
Link: https://doi.org/10.1016/..
 
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2

Detailed Analysis of ITPR1 Missense Variants Guides Diagnos..:

Tolonen, Jussi Pekka ; Parolin Schnekenberg, Ricardo ; McGowan, Simon...
Movement Disorders.  39 (2023)  1 - p. 141-151 , 2023
Link: https://doi.org/10.1002/..
 
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3

Highlighting the Dystonic Phenotype Related to GNAO1:

Wirth, Thomas ; Garone, Giacomo ; Kurian, Manju A....
Movement Disorders.  37 (2022)  7 - p. 1547-1554 , 2022
Link: https://doi.org/10.1002/..
 
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4

Personalized treatment with retigabine for pharmacoresistan..:

Nissenkorn, Andreea ; Kornilov, Polina ; Peretz, Asher...
Epileptic Disorders.  23 (2021)  5 - p. 695-705 , 2021
Link: https://doi.org/10.1684/..
 
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5

Major brain malformations: corpus callosum dysgenesis, agen..:

Gafner, Michal ; Michelson, Marina ; Argilli, Emanuela...
Journal of Human Genetics.  67 (2021)  2 - p. 95-101 , 2021
Link: https://doi.org/10.1038/..
 
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6

Clinical phenotypes of infantile onset CACNA1A-related diso..:

Gur-Hartman, Tamar ; Berkowitz, Oren ; Yosovich, Keren...
European Journal of Paediatric Neurology.  30 (2021)  - p. 144-154 , 2021
Link: https://doi.org/10.1016/..
 
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7

Congenital Mirror Movements Associated With Brain Malformat..:

Nissenkorn, Andreea ; Yosovich, Keren ; Leibovitz, Zvi...
Journal of Child Neurology.  36 (2021)  7 - p. 545-555 , 2021
Link: https://doi.org/10.1177/..
 
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8

Expanding the genotype-phenotype spectrum of ISCA2-related ..:

Hartman, Tamar Gur ; Yosovich, Keren ; Michaeli, Hila Gur...
neurogenetics.  21 (2020)  4 - p. 243-249 , 2020
Link: https://doi.org/10.1007/..
 
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9

Infantile onset progressive cerebellar atrophy and anterior..:

Gafner, Michal ; Michelson, Marina ; Yosovich, Keren...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103801 , 2020
Link: https://doi.org/10.1016/..
 
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10

Autosomal dominant TUBB3-related syndrome: Fetal, radiologi..:

Blumkin, Lubov ; Leibovitz, Zvi ; Krajden-Haratz, Karina...
European Journal of Paediatric Neurology.  26 (2020)  - p. 46-60 , 2020
Link: https://doi.org/10.1016/..
 
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11

Genetic and phenotypic spectrum associated with IFIH1 gain‐..:

Rice, Gillian I. ; Park, Sehoon ; Gavazzi, Francesco...
Human Mutation.  41 (2020)  4 - p. 837-849 , 2020
Link: https://doi.org/10.1002/..
 
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12

Bilateral polymicrogyria associated with dystonia: A new ne..:

Andelman‐Gur, Michal M. ; Leventer, Richard J ; Hujirat, Mohammad...
American Journal of Medical Genetics Part A.  182 (2020)  10 - p. 2207-2213 , 2020
Link: https://doi.org/10.1002/..
 
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13

Myoclonic tremor status as a presenting symptom of adenylos..:

Andelman-Gur, Michal M. ; Saitsu, Hirotomo ; Matsumoto, Naomichi...
European Journal of Medical Genetics.  63 (2020)  12 - p. 104061 , 2020
Link: https://doi.org/10.1016/..
 
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14

Familial Intracranial Hypertension in 2 Brothers WithPTENMu..:

Hady-Cohen, Ronen ; Maharshak, Idit ; Michelson, Marina...
Journal of Child Neurology.  34 (2019)  9 - p. 506-510 , 2019
Link: https://doi.org/10.1177/..
 
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15

Metabolic stroke in a patient with bi-allelic OPA1 mutation:

Zerem, Ayelet ; Yosovich, Keren ; Rappaport, Yael Cohen...
Metabolic Brain Disease.  34 (2019)  4 - p. 1043-1048 , 2019
Link: https://doi.org/10.1007/..
 
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