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Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy Shahar, Noa Ruhrman; Marek-Yagel, Dina; Greenberg, Rotem; Isakov, Ofer; Naftali, Michal; Friedman, Elena; Bazak, Lily; Monakier, Daniel; Veber, Alvit; Shalva, Nechama; Segev, Amitai; Haim, Moti; Sagi-Dain, Lena; Benyamini, Lilach; Shalata, Adel; Josefsberg Ben Yehoshua, Sagi; Basel Salmon, Lina; Hoss, Sara; Ben-Shachar, Shay 分享 收藏
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders 双等位基因MED27变体导致运动障碍的可变脑-小脑-变性 Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S.; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yesil, Goezde; Alavi, Shahryar; Al Shamsi, Aisha M.; Tajsharghi, Homa; Abdel-Hamid, Mohamed S.; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schoeneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E.; Marom, Daphna; Elhanan, Emil; Kurian, Manju A.; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Juergen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayca Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskaer, Katarina; Al Aqeel, Aida, I; High, Frances A.; Armstrong-Javors, Amy E.; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A.; Ghavideldarestani, Maryam; Kamel, Walaa A.; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C.; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J.; Alkuraya, Fowzan Sami; Lupski, James R.; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K.; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina 分享 收藏
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects SART3的变异引起以睾丸发育失败和神经元缺陷为特征的剪接病 Ayers, Katie L.; Eggers, Stefanie; Rollo, Ben N.; Smith, Katherine R.; Davidson, Nadia M.; Siddall, Nicole A.; Zhao, Liang; Bowles, Josephine; Weiss, Karin; Zanni, Ginevra; Burglen, Lydie; Ben-Shachar, Shay; Rosensaft, Jenny; Raas-Rothschild, Annick; Jorgensen, Anne; Schittenhelm, Ralf B.; Huang, Cheng; Robevska, Gorjana; van den Bergen, Jocelyn; Casagranda, Franca; Cyza, Justyna; Pachernegg, Svenja; Wright, David K.; Bahlo, Melanie; Oshlack, Alicia; O'Brien, Terrence J.; Kwan, Patrick; Koopman, Peter; Hime, Gary R.; Girard, Nadine; Hoffmann, Chen; Shilon, Yuval; Zung, Amnon; Bertini, Enrico; Milh, Mathieu; Ben Rhouma, Bochra; Belguith, Neila; Bashamboo, Anu; MacElreavey, Kenneth; Banne, Ehud; Weintrob, Naomi; BenZeev, Bruria; Sinclair, Andrew H. 分享 收藏
Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis Goldman, Omer; Adler, Lital N.; Hajaj, Emma; Croese, Tommaso; Darzi, Naama; Galai, Sivan; Tishler, Hila; Ariav, Yarden; Lavie, Dor; Fellus-Alyagor, Liat; Oren, Roni; Kuznetsov, Yuri; David, Eyal; Jaschek, Rami; Stossel, Chani; Singer, Oded; Malitsky, Sergey; Barak, Renana; Seger, Rony; Erez, Neta; Amit, Ido; Tanay, Amos; Saada, Ann; Golan, Talia; Rubinek, Tamar; Sang Lee, Joo; Ben-Shachar, Shay; Wolf, Ido; Erez, Ayelet 分享 收藏
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Evidence for increased breakthrough rates of SARS-CoV-2 variants of concern in BNT162b2-mRNA-vaccinated individuals Kustin, Talia; Harel, Noam; Finkel, Uriah; Perchik, Shay; Harari, Sheri; Tahor, Maayan; Caspi, Itamar; Levy, Rachel; Leshchinsky, Michael; Ken Dror, Shifra; Bergerzon, Galit; Gadban, Hala; Gadban, Faten; Eliassian, Eti; Shimron, Orit; Saleh, Loulou; Ben-Zvi, Haim; Keren Taraday, Elena; Amichay, Doron; Ben-Dor, Anat; Sagas, Dana; Strauss, Merav; Shemer Avni, Yonat; Huppert, Amit; Kepten, Eldad; Balicer, Ran D.; Netzer, Doron; Ben-Shachar, Shay; Stern, Adi 分享 收藏
Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation Domniz, Noam; Levavi, Liat Ries; Berkenstadt, Michal; Pras, Elon; Cohen, Yoram; Raanani, Hila; Goldstein, Dana Brabbing; Yaron, Yuval; Elizur, Shai; Ben-Shachar, Shay 分享 收藏
Monogenic Causes of Apparently Idiopathic Perinatal Intracranial Hemorrhage Hausman-Kedem, Moran; Malinger, Gustavo; Modai, Shira; Kushner, Steven A.; Shiran, Shelly, I; Ben-Sira, Liat; Roth, Jonathan; Constantini, Shlomi; Fattal-Valevski, Aviva; Ben-Shachar, Shay 分享 收藏
The rare 13q33-q34 microdeletions: eight new patients and review of the literature Sagi-Dain, Lena; Goldberg, Yael; Peleg, Amir; Sukenik-Halevy, Rivka; Sofrin-Drucker, Efrat; Appelman, Zvi; Josefsberg, Ben Yehoshua Sagi; Ben-Shachar, Shay; Vinkler, Chana; Basel-Salmon, Lina; Maya, Idit 分享 收藏
Microarray analysis has no additional value in fetal aberrant right subclavian artery: description of 268 pregnancies and systematic literature review Sagi-Dain, L.; Singer, A.; Josefsberg, S.; Peleg, A.; Lev, D.; Samra, N. Nasser; Bar-Shira, A.; Zeligson, S.; Maya, I.; Ben-Shachar, S. 分享 收藏
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Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies Sagi-Dain, Lena; Maya, Idit; Reches, Adi; Frumkin, Ayala; Grinshpun-Cohen, Julia; Segel, Reeval; Manor, Esther; Khayat, Morad; Tenne, Tamar; Banne, Ehud; Shalata, Adel; Yonath, Hagith; Berger, Racheli; Singer, Amihood; Ben-Shachar, Shay 分享 收藏
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues MTM1突变的女性携带者表现出广泛的临床和病理参与: 描绘诊断线索 Biancalana, Valerie; Scheidecker, Sophie; Miguet, Marguerite; Laquerriere, Annie; Romero, Norma B.; Stojkovic, Tanya; Neto, Osorio Abath; Mercier, Sandra; Voermans, Nicol; Tanner, Laura; Rogers, Curtis; Ollagnon-Roman, Elisabeth; Roper, Helen; Boutte, Celia; Ben-Shachar, Shay; Lornage, Xaviere; Vasli, Nasim; Schaefer, Elise; Laforet, Pascal; Pouget, Jean; Moerman, Alexandre; Pasquier, Laurent; Marcorelle, Pascale; Magot, Armelle; Kusters, Benno; Streichenberger, Nathalie; Tranchant, Christine; Dondaine, Nicolas; Schneider, Raphael; Gasnier, Claire; Calmels, Nadege; Kremer, Valerie; Nguyen, Karine; Perrier, Julie; Kamsteeg, Erik Jan; Carlier, Pierre; Carlier, Robert-Yves; Thompson, Julie; Boland, Anne; Deleuze, Jean-Francois; Fardeau, Michel; Zanoteli, Edmar; Eymard, Bruno; Laporte, Jocelyn 分享 收藏
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