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Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? Daum, Hagit; Meiner, Vardiella; Michaelson-Cohen, Rachel; Sukenik-Halevy, Rivka; Zalcberg, Michal Levy; Bar-Ziv, Anat; Weiden, A. Tzvi; Scher, Sholem Y.; Shohat, Mordechai; Zlotogora, Joel 分享 收藏
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ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size Kadir, Rotem; Harel, Tamar; Markus, Barak; Perez, Yonatan; Bakhrat, Anna; Cohen, Idan; Volodarsky, Michael; Feintsein-Linial, Miora; Chervinski, Elana; Zlotogora, Joel; Sivan, Sara; Birnbaum, Ramon Y.; Abdu, Uri; Shalev, Stavit; Birk, Ohad S. 分享 收藏
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Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Hamamy, Hanan; Antonarakis, Stylianos E.; Cavalli-Sforza, Luigi Luca; Temtamy, Samia; Romeo, Giovanni; Ten Kate, Leo P.; Bennett, Robin L.; Shaw, Alison; Megarbane, Andre; van Duijn, Cornelia; Bathija, Heli; Fokstuen, Siv; Engel, Eric; Zlotogora, Joel; Dermitzakis, Emmanouil; Bottani, Armand; Dahoun, Sophie; Morris, Michael A.; Arsenault, Steve; Aglan, Mona S.; Ajaz, Mubasshir; Alkalamchi, Ayad; Alnaqeb, Dhekra; Alwasiyah, Mohamed K.; Anwer, Nawfal; Awwad, Rawan; Bonnefin, Melissa; Corry, Peter; Gwanmesia, Lorraine; Karbani, Gulshan A.; Mostafavi, Maryam; Pippucci, Tommaso; Ranza-Boscardin, Emmanuelle; Reversade, Bruno; Sharif, Saghira M.; Teeuw, Marieke E.; Bittles, Alan H. 分享 收藏
Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection Patrinos, George P.; Al Aama, Jumana; Al Aqeel, Aida; Al-Mulla, Fahd; Borg, Joseph; Devereux, Andrew; Felice, Alex E.; Macrae, Finlay; Marafie, Makia J.; Petersen, Michael B.; Qi, Ming; Ramesar, Rajkumar S.; Zlotogora, Joel; Cotton, Richard G. H. 分享 收藏
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Maternally inherited Birk barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9 Barel, Ortal; Shalev, Stavit A.; Ofir, Rivka; Cohen, Asi; Zlotogora, Joel; Shorer, Zamir; Mazor, Galia; Finer, Gal; Khateeb, Shareef; Zilberberg, Noam; Birk, Ohad S. 分享 收藏
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