A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy
Levitas, Aviva, Muhammad, Emad, Zhang, Yuan, Perea Gil, Isaac, Serrano, Ricardo, Diaz, Nashielli, Arafat, Maram, Gavidia, Alexandra A, Kapiloff, Michael S, Mercola, Mark, Etzion, Yoram, Parvari, Ruti, Karakikes, Ioannis
Published in PLoS genetics (14.09.2020)
Published in PLoS genetics (14.09.2020)
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Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility
Arafat, Maram, Kleiman, Sandra E, AbuMadighem, Ali, Zeadna, Atif, Levitas, Eliahu, Vardi, Iris Har, Barda, Shimi, Lehavi, Ofer, Hauser, Ron, Lunenfeld, Eitan, Huleihel, Mahmoud, Gershoni, Moran, Parvari, Ruti
Published in European journal of human genetics : EJHG (01.12.2021)
Published in European journal of human genetics : EJHG (01.12.2021)
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Novel mutation in USP26 associated with azoospermia in a Sertoli cell‐only syndrome patient
Arafat, Maram, Zeadna, Atif, Levitas, Eliahu, Har Vardi, Iris, Samueli, Benzion, Shaco‐Levy, Ruth, Dabsan, Salam, Lunenfeld, Eitan, Huleihel, Mahmoud, Parvari, Ruti
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Journal Article
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men
Arafat, Maram, Har-Vardi, Iris, Harlev, Avi, Levitas, Eliahu, Zeadna, Atif, Abofoul-Azab, Maram, Dyomin, Victor, Sheffield, Val C, Lunenfeld, Eitan, Huleihel, Mahmoud, Parvari, Ruti
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics
Arafat, Maram, Harlev, Avi, Har-Vardi, Iris, Levitas, Eliahu, Priel, Tsvia, Gershoni, Moran, Searby, Charles, Sheffield, Val C, Lunenfeld, Eitan, Parvari, Ruti
Published in Journal of medical genetics (01.02.2021)
Published in Journal of medical genetics (01.02.2021)
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Journal Article
A novel role for nucleolin in splice site selection
Shefer, Kinneret, Boulos, Ayub, Gotea, Valer, Arafat, Maram, Ben Chaim, Yair, Muharram, Aya, Isaac, Sara, Eden, Amir, Sperling, Joseph, Elnitski, Laura, Sperling, Ruth
Published in RNA biology (31.12.2022)
Published in RNA biology (31.12.2022)
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Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency
Hershkovitz, Eli, Arafat, Maram, Loewenthal, Neta, Haim, Alon, Parvari, Ruti
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2015)
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Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene
Pikovsky, Oleg, Arafat, Maram, Ovadia, Hilla, Sharoni, Yoav, Al-Athamen, Kayed, Kanengisser-Pines, Bibi, Keren-Politansky, Anat, Levi, Itai, Erez, Offer, Parvari, Ruti, Rabinovich, Anat
Published in Thrombosis research (01.01.2020)
Published in Thrombosis research (01.01.2020)
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Variable Clinical Presentation of Congenital Thrombotic Thrombocytopenic Purpura in a Large Cohort of Patients Carrying a New Mutation in the CUB1 Domain of ADAMTS13 Gene
Pikovsky, Oleg, Arafat, Maram, Ovadia, Hilla, Sharoni, Yoav, Al-Athamen, Kayed, Kanengisser-Pines, Bibi, Keren-Politansky, Anat, Levi, Itai, Parvari, Ruti, Rabinovich, Anat
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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