Torthaí cuardaigh - Asaf Ta‐Shma

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  1. 1
    A human laterality disorder associated with a homozygous WDR16 deletion

    A human laterality disorder associated with a homozygous WDR16 deletion de réir Asaf Ta‐Shma, Zeev Perles, Yaacov Barak, Marion Werner, Ayala Frumkin, Azaria J.J.T. Rein, Orly Elpeleg

    Foilsithe / Cruthaithe 2014
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  2. 2
    A human laterality disorder caused by a homozygous deleterious mutation in<i>MMP21</i>

    A human laterality disorder caused by a homozygous deleterious mutation in<i>MMP21</i> de réir Zeev Perles, Sungjin Moon, Asaf Ta‐Shma, Yaacov Barak, Ludmila Francescatto, Simon Edvardson, Azaria J.J.T. Rein, Orly Elpeleg, Nicholas Katsanis

    Foilsithe / Cruthaithe 2015
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  3. 3
    An<i>SNX10</i>mutation causes malignant osteopetrosis of infancy

    An<i>SNX10</i>mutation causes malignant osteopetrosis of infancy de réir Memet Aker, Alex Rouvinski, Saar Hashavia, Asaf Ta‐Shma, Avraham Shaag, Shamir Zenvirt, Shoshana Israel, Michael Weintraub, Albert Taraboulos, Zvi Bar‐Shavit, Orly Elpeleg

    Foilsithe / Cruthaithe 2012
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  4. 4
    Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

    Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2 de réir Ronen Spiegel, Ophry Pines, Asaf Ta‐Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Simon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit A. Shalev, Lars Feuk, Orly Elpeleg

    Foilsithe / Cruthaithe 2012
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  5. 5
    A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

    A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism de réir Simon Edvardson, Yuval Cinnamon, Asaf Ta‐Shma, Avraham Shaag, Yang-In Yim, Shamir Zenvirt, Chaim Jalas, Suzanne Lesage, Alexis Brice, Albert Taraboulos, Klaus H. Kaestner, Lois E. Greene, Orly Elpeleg

    Foilsithe / Cruthaithe 2012
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  6. 6
    CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

    CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia de réir Amjad Horani, Steven L. Brody, Thomas W. Ferkol, David Shoseyov, Mollie G. Wasserman, Asaf Ta‐Shma, Kate S. Wilson, Philip V. Bayly, Israel Amirav, Malena Cohen‐Cymberknoh, Susan K. Dutcher, Orly Elpeleg, Eitan Kerem

    Foilsithe / Cruthaithe 2013
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  7. 7
    CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy

    CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy de réir Yoram Nevo, Bruria Ben‐Zeev, Adi Tabib, Rachel Straussberg, Yair Anikster, Zamir Shorer, Aviva Fattal‐Valevski, Asaf Ta‐Shma, Sharon Aharoni, Malcolm Rabie, Shamir Zenvirt, Hanoch Goldshmidt, Yakov Fellig, Avraham Shaag, Dror Mevorach, Orly Elpeleg

    Foilsithe / Cruthaithe 2012
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  8. 8
    Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

    Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility de réir Asaf Ta‐Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J.F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J.J.T. Rein, Elif Yılmaz Güleç, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran

    Foilsithe / Cruthaithe 2018
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  9. 9
    Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

    Loss of ADAMTS19 causes progressive non-syndromic heart valve disease de réir Florian Wünnemann, Asaf Ta‐Shma, Christoph Preuß, Séverine Leclerc, Patrick van Vliet, Andrea Oneglia, Maryse Thibeault, Emily Nordquist, Joy Lincoln, Franka Scharfenberg, Christoph Becker‐Pauly, P. Hofmann, Kirstin Hoff, Enrique Audain, Hans-Heiner Kramer, Wojciech Makałowski, Amiram Nir, Sebastian S. Gerety, Matthew E. Hurles, Johanna Comes, Anne Fournier, Hanna Osińska, Jeffrey Robins, Michel Pucéat, Harry C. Dietz, Andrew S. McCallion, Grégor Andelfinger, Bart Loeys, Lut Van Laer, Per Eriksson, Salah A. Mohamed, Luc Mertens, Anders Franco-Cereceda, Seema Mital, Orly Elpeleg, Marc‐Phillip Hitz, Grégor Andelfinger

    Foilsithe / Cruthaithe 2019
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  10. 10
    CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

    CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module de réir Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta‐Shma, Isabella Aprea, Katsura Minegishi, Yuan‐Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J.F. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran

    Foilsithe / Cruthaithe 2020
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