檢索結果 - Yakov Fellig
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CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy 由 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
出版 2012Artigo -
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BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester diseas... 由 Jennifer Picarsic, Theodore J. Pysher, Holly Zhou, Mark Fluchel, Tristan Pettit, Martin Whitehead, Lea F. Surrey, Brian Harding, Gideon Goldstein, Yakov Fellig, Michael Weintraub, Bret C. Mobley, P M Sharples, Maria Luisa Sulis, Eli L. Diamond, Ronald Jaffe, Karuna Shekdar, Mariarita Santi
出版 2019Artigo -
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Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder 由 Alexander Lossos, Nimrod Elazar, Israela Lerer, Ora Schueler‐Furman, Yakov Fellig, Benjamin S. Glick, Bat-El Zimmerman, Haim Azulay, Shlomo Dotan, Sharon Goldberg, John M. Gomori, Penina Ponger, J. P. Newman, Hodaifah Marreed, Andreas Steck, Nicole Schaeren‐Wiemers, Nofar Mor, Michal Harel, Tamar Geiger, Yael Eshed‐Eisenbach, Vardiella Meiner, Elior Peles
出版 2015Artigo -
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Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... 由 Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski
出版 2022Artigo
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