Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

Our experience adds to current knowledge about clinical manifestations and potential symptomatic treatment of PMS in Israel. These findings may promote clinical research and serve as infrastructure for future clinical trials.

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Publication Details

Journal
Orphanet Journal of Rare Diseases
Published
2025-03-18
DOI
https://doi.org/10.1186/s13023-025-03598-3
Primary Topic
Genomic variations and chromosomal abnormalities
Type
article
Field-Weighted Citation Impact
0.00
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article

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

Nurit Assia Batzir, Dorit Lev, Aviva Eliyahu, Marina Michelson et al.
Orphanet Journal of Rare Diseases
Genomic variations and chromosomal abnormalities
article

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome

Nurit Assia Batzir, Dorit Lev, Aviva Eliyahu, Marina Michelson, Elon Pras, Sagi Josefsberg, Hagit Shani, Orit Lobel, Adel Shalata, Miriam Regev, Moshe Frydman, Yoav Bolkier, Bassam Abu‐Libdeh, Ben Pode‐Shakked, Gali Heimer, Ronen Spiegel, Odelia Chorin, Ronen Hady-Cohen, Lior Greenbaum, Tal Weissbach, Reeval Segel, Neta Feinstein-Goren, Mordechai Shohat, Annick Rein‐Rothschild, Shelly Lev-Hochberg
article en

Abstract

Our experience adds to current knowledge about clinical manifestations and potential symptomatic treatment of PMS in Israel. These findings may promote clinical research and serve as infrastructure for future clinical trials.

Orphanet Journal of Rare DiseasesVol. 20(1)
Tel Aviv University (IL), Technion – Israel Institute of Technology (IL), Hebrew University of Jerusalem (IL), Emek Medical Center (IL), Sheba Medical Center (IL), Kaplan Medical Center (IL), Wolfson Medical Center (IL), Shaare Zedek Medical Center (IL), Maccabi Healthcare Services (IL), Schneider Children's Medical Center (IL), Bnai Zion Medical Center (IL), Edmond and Lily Safra Children's Hospital (IL), Maccabi Institute for Health Services Research (IL)
Industry, innovation and infrastructure
Openalex Percentile: Top 94%
Genomic variations and chromosomal abnormalities
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