Research output per year
Research output per year
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Dive into the research topics where Lubov Blumkin is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design
Genomics England Research Consortium, Jan 2024, In: Movement Disorders. 39, 1, p. 141-151 11 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Home-video EEG monitoring in a pediatric setting
Michaeli, Y., Blumkin, L., Medvedovsky, M., Dalal, I. & Nissenkorn, A., 15 Aug 2024, In: Heliyon. 10, 15, e35108.Research output: Contribution to journal › Article › peer-review
Open Access -
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
Cunha, P., Petit, E., Coutelier, M., Coarelli, G., Mariotti, C., Faber, J., Van Gaalen, J., Damasio, J., Fleszar, Z., Tosi, M., Rocca, C., De Michele, G., Minnerop, M., Ewenczyk, C., Santorelli, F. M., Heinzmann, A., Bird, T., Amprosi, M., Indelicato, E. & Benussi, A. & 52 others, , 6 Jul 2023, In: American Journal of Human Genetics. 110, 7, p. 1098-1109 12 p.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations -
Spectrum of brain malformations in fetuses with mild tubulinopathy
Hagege, R., Krajden Haratz, K., Malinger, G., Ben-Sira, L., Leibovitz, Z., Heron, D., Burglen, L., Birnbaum, R., Valence, S., Keren, B., Blumkin, L., Jouannic, J. M., Lerman-Sagie, T. & Garel, C., Jun 2023, In: Ultrasound in Obstetrics and Gynecology. 61, 6, p. 740-748 9 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy
Yechieli, M., Gulsuner, S., Ben-Pazi, H., Fattal, A., Aran, A., Kuzminsky, A., Sagi, L., Guttman, D., Schneebaum Sender, N., Gross-Tsur, V., Klopstock, T., Walsh, T., Renbaum, P., Zeligson, S., Shemer Meiri, L., Lev, D., Shmueli, D., Blumkin, L., Lahad, A. & King, M. C. & 2 others, , 1 Aug 2022, In: Journal of Medical Genetics. 59, 8, p. 759-767 9 p.Research output: Contribution to journal › Article › peer-review
12 Scopus citations