Hasil Pencarian - Hanna Mandel

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  1. 1
    EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans[S]

    EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans[S] oleh Yasuhiro Horibata, Orly Elpeleg, Ayelet Eran, Yoshio Hirabayashi, David Savitzki, Galit Tal, Hanna Mandel, Hiroyuki Sugimoto

    Diterbitkan 2018-01-01
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  2. 2
    Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division

    Mammalian Homologue NME3 of DYNAMO1 Regulates Peroxisome Division oleh Masanori Honsho, Yuichi Abe, Yuuta Imoto, Zee-Fen Chang, Hanna Mandel, Tzipora C. Falik-Zaccai, Yukio Fujiki

    Diterbitkan 2020-10-01
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  3. 3
    Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

    Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants oleh Limor Kalfon, Meirav Baydany, Nadra Samra, Nawaf Heno, Zvi Segal, Ayelet Eran, Alon Yulevich, Yakov Fellig, Hanna Mandel, Tzipora C. Falik‐Zaccai

    Diterbitkan 2022-01-01
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  4. 4
    A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

    A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes oleh Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman

    Diterbitkan 2021-03-01
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  5. 5
    Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

    Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment oleh Andrea E. DeBarber, Limor Kalfon, Ayalla Fedida, Vered Fleisher Sheffer, Shani Ben Haroush, Natalia Chasnyk, Efrat Shuster Biton, Hanna Mandel, Krystal Jeffries, Eric S. Shinwell, Tzipora C. Falik-Zaccai

    Diterbitkan 2018-11-01
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  6. 6
    Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects

    Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects oleh Hava Peretz, Ayala Lagziel, Florian Bittner, Mustafa Kabha, Meirav Shtauber-Naamati, Vicki Zhuravel, Sali Usher, Steffen Rump, Silke Wollers, Bettina Bork, Hanna Mandel, Tzipora Falik-Zaccai, Limor Kalfon, Juergen Graessler, Avraham Zeharia, Nasser Heib, Hannah Shalev, Daniel Landau, David Levartovsky

    Diterbitkan 2021-07-01
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  7. 7
    Vici syndrome in Israel: Clinical and molecular insights

    Vici syndrome in Israel: Clinical and molecular insights oleh Odelia Chorin, Odelia Chorin, Odelia Chorin, Yoel Hirsch, Rachel Rock, Rachel Rock, Rachel Rock, Liat Salzer Sheelo, Liat Salzer Sheelo, Yael Goldberg, Yael Goldberg, Hanna Mandel, Hanna Mandel, Tova Hershkovitz, Tova Hershkovitz, Nicole Fleischer, Lior Greenbaum, Lior Greenbaum, Lior Greenbaum, Uriel Katz, Uriel Katz, Ortal Barel, Ortal Barel, Nasrin Hamed, Nasrin Hamed, Bruria Ben-Zeev, Bruria Ben-Zeev, Shoshana Greenberger, Shoshana Greenberger, Shoshana Greenberger, Nadra Nasser Samra, Nadra Nasser Samra, Michal Stern Zimmer, Michal Stern Zimmer, Michal Stern Zimmer, Annick Raas-Rothschild, Annick Raas-Rothschild, Ben Pode-Shakked, Ben Pode-Shakked, Ben Pode-Shakked

    Diterbitkan 2022-09-01
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  8. 8
    Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

    Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. oleh Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers

    Diterbitkan 2011-12-01
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  9. 9
    Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

    Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome oleh Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni

    Diterbitkan 2017-03-01
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  10. 10
    Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

    Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome oleh Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni

    Diterbitkan 2017-09-01
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  11. 11
    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

    ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation oleh Eric J. R. Jansen, Sharita Timal, Margret Ryan, Angel Ashikov, Monique van Scherpenzeel, Laurie A. Graham, Hanna Mandel, Alexander Hoischen, Theodore C. Iancu, Kimiyo Raymond, Gerry Steenbergen, Christian Gilissen, Karin Huijben, Nick H. M. van Bakel, Yusuke Maeda, Richard J. Rodenburg, Maciej Adamowicz, Ellen Crushell, Hans Koenen, Darius Adams, Julia Vodopiutz, Susanne Greber-Platzer, Thomas Müller, Gregor Dueckers, Eva Morava, Jolanta Sykut-Cegielska, Gerard J. M. Martens, Ron A. Wevers, Tim Niehues, Martijn A. Huynen, Joris A. Veltman, Tom H. Stevens, Dirk J. Lefeber

    Diterbitkan 2016-05-01
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  12. 12
    Hereditary orotic aciduria identified by newborn screening

    Hereditary orotic aciduria identified by newborn screening oleh Orna Staretz-Chacham, Orna Staretz-Chacham, Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Nasser Abu Salah, Yair Anikster, Yair Anikster, Ortal Barel, Elena Dumin, Elena Dumin, Aviva Fattal-Valevski, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Eli Hershkovitz, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Yuval Landau, Tally Lerman-Sagie, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Ronen Spiegel, Ronen Spiegel, Galit Tal, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Stanley H. Korman, Shlomo Almashanu

    Diterbitkan 2023-03-01
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  13. 13
    Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

    Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder oleh Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove

    Diterbitkan 2018-10-01
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