检索结果 - Haike Reznik‐Wolf

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  1. 1
    Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

    Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome 由 Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik‐Wolf, Elon Pras

    出版 2008
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  2. 2
    An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

    An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis 由 Abraham Zlotogorski, Dina Marek, Liran Horev, Almogit Abu, Dan Ben‐Amitai, Liora Gerad, Arieh Ingber, Moshe Frydman, Haike Reznik‐Wolf, Daniel Vardy, Elon Pras

    出版 2006
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  3. 3
    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families 由 Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik‐Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli‐Avella, Peter Bauer, Miriam Regev, Annick Raas‐Rothschild, Elon Pras, Michal Berkenstadt

    出版 2019
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  4. 4
    Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

    Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis 由 Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik‐Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben‐Asher, Dongliang Ge, Kevin V. Shianna, Zvulun Elazar, David B. Goldstein, Elon Pras, Doron Lancet

    出版 2012
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  5. 5
    Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects

    Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects 由 Amos J. Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg‐Kushnir, Michele Rhodes, David L. Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik‐Wolf, Elena Ribakovsky, Carlos Simón, Wadi Hazou, Yechezkel Sidi, Avishay Lahad, Hagar Katzir, Shira Sagie, Haifa A. Aqeilan, Galina Glousker, Ninette Amariglio, Yehuda Tzfati, Sara Selig, Gideon Rechavi, Raz Somech

    出版 2016
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  6. 6
    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy 由 Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik‐Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman‐Sagie, Esther Leshinsky‐Silver, Yair Anikster, Edna Ben‐Asher, Tsviya Olender, Laurence Colleaux, Jean‐Claude Décarie, Susan Blasér, Brenda Banwell, Rasesh B. Joshi, Xiao‐Ping He, Lysanne Patry, Rachel Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong‐hui Jiang, William C. Wetsel, James O McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

    出版 2013
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