학술논문
'학술논문'
에서 검색결과 67건 | 목록
1~10
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schütz, Frédéric; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; DeMille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Åsmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Aleš; Haanpää, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Genome Medicine. 16(1)
Academic Journal
Sissy Bassani; Jacqueline Chrast; Giovanna Ambrosini; Norine Voisin; Frédéric Schütz; Alfredo Brusco; Fabio Sirchia; Lydia Turban; Susanna Schubert; Rami Abou Jamra; Jan-Ulrich Schlump; Desiree DeMille; Pinar Bayrak-Toydemir; Gary Rex Nelson; Kristen Nicole Wong; Laura Duncan; Mackenzie Mosera; Christian Gilissen; Lisenka E. L. M. Vissers; Rolph Pfundt; Rogier Kersseboom; Hilde Yttervik; Geir Åsmund Myge Hansen; Marie Falkenberg Smeland; Kameryn M. Butler; Michael J. Lyons; Claudia M. B. Carvalho; Chaofan Zhang; James R. Lupski; Lorraine Potocki; Leticia Flores-Gallegos; Rodrigo Morales-Toquero; Florence Petit; Binnaz Yalcin; Annabelle Tuttle; Houda Zghal Elloumi; Lane McCormick; Mary Kukolich; Oliver Klaas; Judit Horvath; Marcello Scala; Michele Iacomino; Francesca Operto; Federico Zara; Karin Writzl; Aleš Maver; Maria K. Haanpää; Pia Pohjola; Harri Arikka; Anneke J. A. Kievit; Camilla Calandrini; Christian Iseli; Nicolas Guex; Alexandre Reymond
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Academic Journal
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle L.; Chassevent, Anna; Smith-Hicks, Constance L.; de la Cruz, Xavier; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M J; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle; Song, Hongjun; Ming, Guo-li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez-Balbás, Marian A.; Akizu, Naiara
Nature Communications. 14(1)
Academic Journal
Carolina Gracia-Diaz; Yijing Zhou; Qian Yang; Reza Maroofian; Paula Espana-Bonilla; Chul-Hwan Lee; Shuo Zhang; Natàlia Padilla; Raquel Fueyo; Elisa A. Waxman; Sunyimeng Lei; Garrett Otrimski; Dong Li; Sarah E. Sheppard; Paul Mark; Margaret H. Harr; Hakon Hakonarson; Lance Rodan; Adam Jackson; Pradeep Vasudevan; Corrina Powel; Shehla Mohammed; Sateesh Maddirevula; Hamad Alzaidan; Eissa A. Faqeih; Stephanie Efthymiou; Valentina Turchetti; Fatima Rahman; Shazia Maqbool; Vincenzo Salpietro; Shahnaz H. Ibrahim; Gabriella di Rosa; Henry Houlden; Maha Nasser Alharbi; Nouriya Abbas Al-Sannaa; Peter Bauer; Giovanni Zifarelli; Conchi Estaras; Anna C. E. Hurst; Michelle L. Thompson; Anna Chassevent; Constance L. Smith-Hicks; Xavier de la Cruz; Alexander M. Holtz; Houda Zghal Elloumi; M J Hajianpour; Claudine Rieubland; Dominique Braun; Siddharth Banka; Genomic England Research Consortium; Deborah L. French; Elizabeth A. Heller; Murielle Saade; Hongjun Song; Guo-li Ming; Fowzan S. Alkuraya; Pankaj B. Agrawal; Danny Reinberg; Elizabeth J. Bhoj; Marian A. Martínez-Balbás; Naiara Akizu
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
Academic Journal
Rauan Kaiyrzhanov; Maha S. Zaki; Tracy Lau; Sambuddha Sen; Reza Azizimalamiri; Mina Zamani; Gözde Yeşil Sayin; Taru Hilander; Stephanie Efthymiou; Viorica Chelban; Ruth Brown; Kyle Thompson; Maria Irene Scarano; Jaya Ganesh; Kairgali Koneev; Ismail Musab Gülaçar; Richard Person; Dinara Sadykova; Yerdan Maidyrov; Tahereh Seifi; Aizhan Zadagali; Geneviève Bernard; Katrina Allis; Houda Zghal Elloumi; Amanda Lindy; Ehsan Taghiabadi; Sumit Verma; Rachel Logan; Brian Kirmse; Renkui Bai; Shaimaa M. Khalaf; Mohamed S. Abdel‐Hamid; Alireza Sedaghat; Gholamreza Shariati; Mahmoud Issa; Jawaher Zeighami; Hasnaa M. Elbendary; Garry Brown; Robert W. Taylor; Hamid Galehdari; Joseph J. Gleeson; Christopher J. Carroll; James A. Cowan; Andres Moreno‐De‐Luca; Henry Houlden; Reza Maroofian
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Academic Journal
Whittle, Ella F.; Chilian, Madison; Karimiani, Ehsan Ghayoor; Progri, Helga; Buhas, Daniela; Kose, Melis; Ganetzky, Rebecca D.; Toosi, Mehran Beiraghi; Torbati, Paria Najarzadeh; Badv, Reza Shervin; Shelihan, Ivan; Yang, Hui; Elloumi, Houda Zghal; Lee, Sukyeong; Jamshidi, Yalda; Pittman, Alan M.; Houlden, Henry; Ignatius, Erika; Rahman, Shamima; Maroofian, Reza; Yoon, Wan Hee; Carroll, Christopher J.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Bassani, Sissy; Chrast, Jacqueline; Ambrosini, Giovanna; Voisin, Norine; Schuetz, Frederic; Brusco, Alfredo; Sirchia, Fabio; Turban, Lydia; Schubert, Susanna; Abou Jamra, Rami; Schlump, Jan-Ulrich; Demille, Desiree; Bayrak-Toydemir, Pinar; Nelson, Gary Rex; Wong, Kristen Nicole; Duncan, Laura; Mosera, Mackenzie; Gilissen, Christian; Vissers, Lisenka E. L. M.; Pfundt, Rolph; Kersseboom, Rogier; Yttervik, Hilde; Hansen, Geir Asmund Myge; Smeland, Marie Falkenberg; Butler, Kameryn M.; Lyons, Michael J.; Carvalho, Claudia M. B.; Zhang, Chaofan; Lupski, James R.; Potocki, Lorraine; Flores-Gallegos, Leticia; Morales-Toquero, Rodrigo; Petit, Florence; Yalcin, Binnaz; Tuttle, Annabelle; Elloumi, Houda Zghal; McCormick, Lane; Kukolich, Mary; Klaas, Oliver; Horvath, Judit; Scala, Marcello; Iacomino, Michele; Operto, Francesca; Zara, Federico; Writzl, Karin; Maver, Ales; Haanpaa, Maria K.; Pohjola, Pia; Arikka, Harri; Kievit, Anneke J. A.; Calandrini, Camilla; Iseli, Christian; Guex, Nicolas; Reymond, Alexandre
Academic Journal
Garber, Alison; Weingarten, Lisa S.; Abreu, Nicolas J.; Elloumi, Houda Zghal; Haack, Tobias; Hildebrant, Clara; Martínez‐Gil, Núria; Mathews, Jennifer; Müller, Amelie Johanna; Valenzuela Palafoll, Irene; Steigerwald, Connolly; Chung, Wendy K.
American Journal of Medical Genetics. Part A; Jul2024, Vol. 194 Issue 7, p1-10, 10p
Academic Journal
Garber, Alison; Weingarten, Lisa S.; Abreu, Nicolas J.; Elloumi, Houda Zghal; Haack, Tobias; Hildebrant, Clara; Martinez-Gil, Nuria; Mathews, Jennifer; Mueller, Amelie Johanna; Valenzuela Palafoll, Irene; Steigerwald, Connolly; Chung, Wendy K.
Academic Journal
Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
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