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收藏Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype
Shalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J.; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna
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收藏Egg multivesicular bodies elicit an LC3-associated phagocytosis-like pathway to degrade paternal mitochondria after fertilization
Ben-Hur, Sharon; Sernik, Shoshana; Afar, Sara; Kolpakova, Alina; Politi, Yoav; Gal, Liron; Florentin, Anat; Golani, Ofra; Sivan, Ehud; Dezorella, Nili; Morgenstern, David; Pietrokovski, Shmuel; Schejter, Eyal; Yacobi-Sharon, Keren; Arama, Eli
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收藏Expanding and Enriching the LncRNA Gene-Disease Landscape Using the GeneCaRNA Database使用GeneCaRNA数据库扩展和丰富LncRNA基因-疾病景观
Aggarwal, Shalini; Rosenblum, Chana; Gould, Marshall; Ziman, Shahar; Barshir, Ruth; Zelig, Ofer; Guan-Golan, Yaron; Iny-Stein, Tsippi; Safran, Marilyn; Pietrokovski, Shmuel; Lancet, Doron
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收藏A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure
Gershoni, Moran; Braun, Tslil; Hauser, Ron; Barda, Shimi; Lehavi, Ofer; Malcov, Mira; Frumkin, Tsvia; Kalma, Yael; Pietrokovski, Shmuel; Arama, Eli; Kleiman, Sandra E.
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收藏Pls1 Is a Peroxisomal Matrix Protein with a Role in Regulating Lysine Biosynthesis
David, Yotam; Castro, Ines Gomes; Yifrach, Eden; Bibi, Chen; Katawi, Enas; Har-Shai, Dekel Yahav; Brodsky, Sagie; Barkai, Naama; Ravid, Tommer; Eisenstein, Miriam; Pietrokovski, Shmuel; Schuldiner, Maya; Zalckvar, Einat
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收藏Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome
Riemersma, Moniek; Mandel, Hanna; van Beusekom, Ellen; Gazzoli, Isabella; Roscioli, Tony; Eran, Ayelet; Gershoni-Baruch, Ruth; Gershoni, Moran; Pietrokovski, Shmuel; Vissers, Lisenka E.; Lefeber, Dirk J.; Willemsen, Michel A.; Wevers, Ron A.; van Bokhoven, Hans
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