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Page 1
Expanded targeted preconception screening panel in Israel: findings and insights.
Reches A, Ofen Glassner V, Goldstein N, Yeshaya J, Delmar G, Portugali E, Hallas T, Weinstein A, Kurolap A, Berkenstadt M, Mantsour T, Abu-Gutstein L, Ries-Levavi L, Reznik-Wolf H, Behar DM, Yaron Y, Pras E, Baris Feldman H. Reches A, et al. Among authors: kurolap a. J Med Genet. 2024 May 6:jmg-2023-109629. doi: 10.1136/jmg-2023-109629. Online ahead of print. J Med Genet. 2024. PMID: 38719349
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, Feldman HB, Horn AHC, Hurst ACE, Kelly MA, Kruer MC, Kurolap A, Laquerriere A, Li M, Mark PR, Morawski M, Nizon M, Pastinen T, Polster T, Saugier-Veber P, SeSong J, Sticht H, Stieler JT, Thifffault I, van Eyk CL, Marcorelles P, Vezain-Mouchard M, Abou Jamra R, Oppermann H. Herbst C, et al. Among authors: kurolap a. Hum Genet. 2024 Mar;143(3):455-469. doi: 10.1007/s00439-024-02655-4. Epub 2024 Mar 25. Hum Genet. 2024. PMID: 38526744 Free PMC article.
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, Rips J, Shlomai NO, Friedman SE, Shporen CH, Ben-Yehoshua SJ, Simmonds A, Yaacobi RG, Bauer-Rusek S, Omari H, Weiss K, Hochwald O, Koifman A, Globus O, Batzir NA, Yaron N, Segel R, Morag I, Reish O, Eliyahu A, Leibovitch L, Schwartz ME, Abramsky R, Hochberg A, Oron A, Banne E, Portnov I, Samra NN, Singer A, Baris Feldman H. Marom D, et al. Among authors: kurolap a. JAMA Netw Open. 2024 Feb 5;7(2):e240146. doi: 10.1001/jamanetworkopen.2024.0146. JAMA Netw Open. 2024. PMID: 38386321 Free PMC article.
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Baris Feldman H, Chai Gadot C, Zahler D, Mory A, Aviram G, Elhanan E, Shefer G, Goldiner I, Amir Y, Kurolap A, Ablin JN. Baris Feldman H, et al. Among authors: kurolap a. N Engl J Med. 2023 Nov 2;389(18):1685-1692. doi: 10.1056/NEJMoa2301908. N Engl J Med. 2023. PMID: 37913506
Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
Brabbing-Goldstein D, Kozlova D, Bazak L, Basel-Salmon L, Gilboa Y, Marciano-Levi I, Zahra J, Kanengisser-Pines B, Botvinik A, Kurolap A, Birnbaum R, Yaron Y. Brabbing-Goldstein D, et al. Among authors: kurolap a. Ultrasound Obstet Gynecol. 2024 Mar;63(3):392-398. doi: 10.1002/uog.27482. Ultrasound Obstet Gynecol. 2024. PMID: 37718619
58 results