Search Results - Jonathan Rips

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  1. 1
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    Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly by Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked

    Published 2025
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  2. 2
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    A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2 by Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel

    Published 2025
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  3. 3
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    High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics by Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel

    Published 2025
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