未登录Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects
Peretz, Hava; Lagziel, Ayala; Bittner, Florian; Kabha, Mustafa; Shtauber-Naamati, Meirav; Zhuravel, Vicki; Usher, Sali; Rump, Steffen; Wollers, Silke; Bork, Bettina; Mandel, Hanna; Falik-Zaccai, Tzipora; Kalfon, Limor; Graessler, Juergen; Zeharia, Avraham; Heib, Nasser; Shalev, Hannah; Landau, Daniel; Levartovsky, David
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收藏Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
Zeharia, Avraham; Friedman, Jonathan R.; Tobar, Ana; Saada, Ann; Konen, Osnat; Fellig, Yacov; Shaag, Avraham; Nunnari, Jodi; Elpeleg, Orly
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收藏Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Wong, Sunnie Yan-Wai; Beamer, Lesa J.; Gadomski, Therese; Honzik, Tomas; Mohamed, Miski; Wortmann, Saskia B.; Holmefjord, Katja S. Brocke; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Ackermann, Amanda; Stanley, Charles A.; Rymen, Daisy; Zeharia, Avraham; Al-Sayed, Moeen; Marquardt, Thomas; Jaeken, Jaak; Lefeber, Dirk; Conrad, Donald F.; Kozicz, Tamas; Morava, Eva
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收藏Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
Basel-Vanagaite, Lina; Smirin-Yosef, Pola; Essakow, Jenna Lee; Tzur, Shay; Lagovsky, Irina; Maya, Idit; Pasmanik-Chor, Metsada; Yeheskel, Adva; Konen, Osnat; Orenstein, Naama; Hubshman, Monika Weisz; Drasinover, Valerie; Magal, Nurit; Amit, Gaby Peretz; Zalzstein, Yael; Zeharia, Avraham; Shohat, Mordechai; Straussberg, Rachel; Monte, Didier; Salmon-Divon, Mali; Behar, Doron M.
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收藏Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency
Behar, Doron M.; Basel-Vanagaite, Lina; Glaser, Fabian; Kaplan, Marielle; Tzur, Shay; Magal, Nurit; Eidlitz-Markus, Tal; Haimi-Cohen, Yishay; Sarig, Galit; Bormans, Concetta; Shohat, Mordechai; Zeharia, Avraham
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