检索结果 - Reinstein, Eyal

Challenges of using next generation sequencing in newborn screening 由 REINSTEIN, EYAL

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Exome sequencing identified mutations in CASK and MYBPC3 as the cause of a complex dilated cardiomyopathy phenotype 由 REINSTEIN, EYAL, TZUR, SHAY, BORMANS, CONCETTA, BEHAR, DORON M.

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Recurrent Compartment Syndrome in a Patient with Clinical Features of a Connective Tissue Disorder 由 Barajas, Brenda D, Sun, Angela, Rimoin, David L, Reinstein, Eyal

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Early-Onset Osteoarthritis in Ehlers-Danlos Syndrome type VIII 由 Reinstein, Eyal, Pariani, Mitchel, Lachman, Ralph S, Nemec, Stephen, Rimoin, David L

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Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing 由 Reinstein, Eyal, Tzur, Shay, Cohen, Rony, Bormans, Concetta, Behar, Doron M

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Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study 由 Reinstein, Eyal, Pariani, Mitchel, Bannykh, Serguei, Rimoin, David L, Schievink, Wouter I

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Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature 由 Reinstein, Eyal, Pimentel, Mark, Pariani, Mitchel, Nemec, Stephen, Sokol, Thomas, Rimoin, David L

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Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy 由 COHEN, LIOR, TZUR, SHAY, GOLDENBERG-COHEN, NITZA, BORMANS, CONCETTA, BEHAR, DORON M., REINSTEIN, EYAL

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Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features 由 Reinstein, Eyal, DeLozier, Celia Dawn, Simon, Ziv, Bannykh, Serguei, Rimoin, David L, Curry, Cynthia J

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Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues 由 Reinstein, Eyal, Okenfuss, Ericka B., Wadhawan, Isha, Wilnai, Yael, Manning, Melanie, Rimoin, David L., Lachman, Ralph S.

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Hyper IgE Syndrome in an Isolated Population in Israel 由 Lachover-Roth, Idit, Lagovsky, Irina, Shtorch-Asor, Atalia, Confino-Cohen, Ronit, Reinstein, Eyal, Garty, Ben-Zion

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Basal and human papillomavirus E6 oncoprotein-induced degradation of Myc proteins by the ubiquitin pathway 由 Gross-Mesilaty, Shlomit, Reinstein, Eyal, Bercovich, Beatrice, Tobias, Karin E., Schwartz, Alan L., Kahana, Chaim, Ciechanover, Aaron

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Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C 由 Reinstein, Eyal, Gutierrez-Fernandez, Ana, Tzur, Shay, Bormans, Concetta, Marcu, Shai, Tayeb-Fligelman, Einav, Vinkler, Chana, Raas-Rothschild, Annick, Irge, Dana, Landau, Meytal, Shohat, Mordechai, Puente, Xose S, Behar, Doron M, Lopez-Otın, Carlos

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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A 由 Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott, Richard, Thompson, Elizabeth M, Robertson, Terry, Coppin, Brian, Siegel, Robert, Bret Zurita, Montserrat, Rodríguez, Jose I, Morales, Carmen, Rodrigues, Yuri, Arcas, Joaquín, Saggar, Anand, Horton, Margaret, Zackai, Elaine, Graham, John M, Rimoin, David L, Robertson, Stephen P

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement 由 Kapferer-Seebacher, Ines, Pepin, Melanie, Werner, Roland, Aitman, Timothy J., Nordgren, Ann, Stoiber, Heribert, Thielens, Nicole, Gaboriaud, Christine, Amberger, Albert, Schossig, Anna, Gruber, Robert, Giunta, Cecilia, Bamshad, Michael, Björck, Erik, Chen, Christina, Chitayat, David, Dorschner, Michael, Schmitt-Egenolf, Marcus, Hale, Christopher J., Hanna, David, Hennies, Hans Christian, Heiss-Kisielewsky, Irene, Lindstrand, Anna, Lundberg, Pernilla, Mitchell, Anna L., Nickerson, Deborah A., Reinstein, Eyal, Rohrbach, Marianne, Romani, Nikolaus, Schmuth, Matthias, Silver, Rachel, Taylan, Fulya, Vandersteen, Anthony, Vandrovcova, Jana, Weerakkody, Ruwan, Yang, Margaret, Pope, F. Michael, Byers, Peter H., Zschocke, Johannes

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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation 由 Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna

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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly 由 Schanze, Ina, Bunt, Jens, Lim, Jonathan W.C., Schanze, Denny, Dean, Ryan J., Alders, Marielle, Blanchet, Patricia, Attié-Bitach, Tania, Berland, Siren, Boogert, Steven, Boppudi, Sangamitra, Bridges, Caitlin J., Cho, Megan T., Dobyns, William B., Donnai, Dian, Douglas, Jessica, Earl, Dawn L., Edwards, Timothy J., Faivre, Laurence, Fregeau, Brieana, Genevieve, David, Gérard, Marion, Gatinois, Vincent, Holder-Espinasse, Muriel, Huth, Samuel F., Izumi, Kosuke, Kerr, Bronwyn, Lacaze, Elodie, Lakeman, Phillis, Mahida, Sonal, Mirzaa, Ghayda M., Morgan, Sian M., Nowak, Catherine, Peeters, Hilde, Petit, Florence, Pilz, Daniela T., Puechberty, Jacques, Reinstein, Eyal, Rivière, Jean-Baptiste, Santani, Avni B., Schneider, Anouck, Sherr, Elliott H., Smith-Hicks, Constance, Wieland, Ilse, Zackai, Elaine, Zhao, Xiaonan, Gronostajski, Richard M., Zenker, Martin, Richards, Linda J.

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