Resultats de la cerca - Debora Rapaport
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Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation per Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida‐Yamamoto, Dana Fuchs‐Telem, Qiaoli Li, Ksenya Cohen‐Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Z Borochowitz, Gilly Padalon‐Brauch, Jouni Uitto, Mia Horowitz, Stavit A. Shalev, Eli Sprecher
Publicat 2012Artigo -
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A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ich... per Eli Sprecher, Akemi Ishida‐Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanna Keren, Timothy J. O’Brien, Dani Bercovich, Stavit A. Shalev, Dan Geiger, Richard N. Bergman, Mia Horowitz, Hanna Mandel
Publicat 2005Artigo -
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RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome per Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs‐Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak‐Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Richard N. Bergman, Mia Horowitz, Akemi Ishida‐Yamamoto, Eli Sprecher
Publicat 2009Artigo -
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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting per Liat Samuelov, Ofer Sarig, Robert M. Harmon, Debora Rapaport, Akemi Ishida‐Yamamoto, Ofer Isakov, Jennifer L. Koetsier, Andrea Gat, Ilan Goldberg, Richard N. Bergman, Ronen Spiegel, Ori Eytan, Shamir Geller, Sarit Peleg, Noam Shomron, Christabelle S.M. Goh, Neil Wilson, Frances J.D. Smith, Elizabeth Pöhler, Michael A. Simpson, W.H. Irwin McLean, Alan D. Irvine, Mia Horowitz, John A. McGrath, Kathleen J. Green, Eli Sprecher
Publicat 2013Artigo
Eines de cerca:
Matèries relacionades
Biology
Cell
Cell biology
Gene
Genetics
Biochemistry
Endocytic cycle
Endocytosis
Endoplasmic reticulum
Endosome
Golgi apparatus
Intracellular
Medicine
Membrane
Allergy
Antibody
Autoimmune disease
Cadherin
Caenorhabditis elegans
Cell cycle
Cellular compartment
Centrosome
Coding region
Colocalization
Compartment (ship)
Cutis laxa
DNA
Dermatology
Desmoglein
Desmoglein 1