Resultados de procura - Haike Reznik‐Wolf
- Mostrando 1 - 6 Resultados de 6
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An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis por Abraham Zlotogorski, Dina Marek, Liran Horev, Almogit Abu, Dan Ben‐Amitai, Liora Gerad, Arieh Ingber, Moshe Frydman, Haike Reznik‐Wolf, Daniel Vardy, Elon Pras
Publicado 2006Artigo -
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Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families por 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
Publicado 2019Artigo -
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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis por 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
Publicado 2012Artigo -
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Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects por 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
Publicado 2016Artigo -
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Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy por 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
Publicado 2013Artigo
Ferramentas de procura:
Materias Relacionadas
Biology
Gene
Genetics
Mutation
Medicine
Frameshift mutation
Amino acid
Apoptosis
Asparagine
Asparagine synthetase
Atrophy
Autophagy
Cell biology
Cerebral atrophy
Connective tissue
Cornea
DNA
Exome sequencing
Exon
Family history
Fetus
Genetic counseling
Genetic testing
Glutamate receptor
Glutamine
Hypotrichosis
Internal medicine
Keratin
Loss function
Microcephaly