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Dive into the research topics where Ben Pode-Shakked 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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Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome
Showpnil, I. A., Feinstein-Goren, N., Greenbaum, L., Barel, O., Koboldt, D. C., Brugmann, S. A., Weaver, K. N., Slavotinek, A., Pode-Shakked, B. & Stottmann, R. W., Apr 2026, In: Clinical Genetics. 109, 4, p. 788-795 8 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN-Related Short Stature
Shalev-Goldman, E., Asaly, A., Ityel, H., Pode-Shakked, B., Modan-Moses, D. & Levy-Shraga, Y., Feb 2026, In: Clinical Genetics. 109, 2, p. 374-379 6 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events
Heimer, G., Pode-Shakked, B., Marek-Yagel, D., Vernitsky, H., Tzadok, M., Barel, O., Eyal, E., Ben-Zeev, B., Atzmon, G. & Anikster, Y., Feb 2025, In: Clinical Genetics. 107, 2, p. 179-187 9 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Chorin, O., Greenbaum, L., Lev-Hochberg, S., Feinstein-Goren, N., Eliyahu, A., Shani, H., Pras, E., Weissbach, T., Bolkier, Y., Heimer, G., Lev, D., Michelson, M., Regev, M., Josefsberg, S., Batzir, N. A., Shalata, A., Spiegel, R., Segel, R., Lobel, O. & Abu-Libdeh, B. & 5 others, , Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 132.Research output: Contribution to journal › Article › peer-review
Open Access -
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Ung, D. C., Pietrancosta, N., Badillo, E. B., Raux, B., Tapken, D., Zlatanovic, A., Doridant, A., Pode-Shakked, B., Raas-Rothschild, A., Elpeleg, O., Abu-Libdeh, B., Hamed, N., Papon, M. A., Marouillat, S., Thépault, R. A., Stevanin, G., Elegheert, J., Letellier, M., Hollmann, M. & Lambolez, B. & 4 others, , Apr 2024, In: Molecular Psychiatry. 29, 4, p. 1205-1215 11 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations