Výsledky vyhledávání - Alper Gezdirici
- Zobrazuji výsledky 1 - 20 z 20
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DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome Autor Janson J. White, Juliana F. Mazzeu, Alexander Hoischen, Yavuz Bayram, Marjorie Withers, Alper Gezdirici, Virginia Kimonis, Marloes Steehouwer, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Bregje W.M. van Bon, V. Reid Sutton, James R. Lupski, Han G. Brunner, Claudia M.B. Carvalho
Vydáno 2016Artigo -
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Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects Autor Niki T. Loges, Dinu Antony, Aleš Maver, Matthew A. Deardorff, Elif Yılmaz Güleç, Alper Gezdirici, Tabea Nöthe-Menchen, Inga M. Höben, Lena Jelten, Diana Frank, Claudius Werner, Johannes Tebbe, Kaman Wu, Elizabeth Goldmuntz, Goran Čuturilo, Bryan L. Krock, Alyssa Ritter, Rim Hjeij, Zeineb Bakey, Petra Pennekamp, Bernd Dworniczak, Han G. Brunner, Borut Peterlin, İbrahim Cansaran Tanıdır, Heike Olbrich, Heymut Omran, Miriam Schmidts
Vydáno 2018Artigo -
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin Autor Yavuz Bayram, Ender Karaca, Zeynep Coban‐Akdemir, Elif Ozdamar Yilmaz, Gulsen Akay Tayfun, Hatip Aydın, Deniz Torun, Sevcan Tuğ Bozdoğan, Alper Gezdirici, Sedat Işıkay, Mehmed M. Atik, Tomasz Gambin, Tamar Harel, Ayman W. El‐Hattab, Wu‐Lin Charng, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Ali̇ Karaman, Tamer Çelik, Özge Özalp Yüreğir, Timur Yıldırım, Avni İlhan Bayhan, Eric Boerwinkle, Richard A. Gibbs, Nursel Elçioğlu, Beyhan Tüysüz, James R. Lupski
Vydáno 2016Artigo -
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Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility Autor Asaf Ta‐Shma, Rim Hjeij, Zeev Perles, Gerard W. Dougherty, Ibrahim Abu Zahira, Stef J.F. Letteboer, Dinu Antony, Alaa Darwish, Dorus A. Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T. Loges, Oded Breuer, Avraham Shaag, Azaria J.J.T. Rein, Elif Yılmaz Güleç, Alper Gezdirici, Revital Abitbul, Nael Elias, Israel Amirav, Miriam Schmidts, Ronald Roepman, Orly Elpeleg, Heymut Omran
Vydáno 2018Artigo -
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Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease Autor Angad Jolly, Yavuz Bayram, Serap Turan, Zehra Aycan, Tülay Tos, Zehra Yavaş Abalı, Bülent Hacıhamdioğlu, Zeynep H. Coban Akdemir, Hadia Hijazi, Serpil Baş, Zeynep Atay, Tülay Güran, Saygın Abalı, Firdevs Baş, Feyza Darendelıler, Roberto Colombo, Tahsin Stefan Barakat, Tuula Rinne, Janson J. White, Gözde Yeşil, Alper Gezdirici, Elif Yılmaz Güleç, Ender Karaca, Davut Pehli̇van, Shalini N. Jhangiani, Donna M. Muzny, Şükran Poyrazoğlu, Abdullah Bereket, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski
Vydáno 2019Artigo -
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Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability Autor Ruizhi Duan, Hadia Hijazi, Elif Yılmaz Güleç, Hatice Koçak Eker, Silvia R. Costa, Yavuz Şahin, Zeynep Ocak, Sedat Işıkay, Özge Özalp, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Nursel Elçioǧlu, Débora Romeo Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gülsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban‐Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehli̇van, Richard A. Gibbs, James R. Lupski
Vydáno 2022Artigo -
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Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability Autor Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah F. Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehli̇van, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary Willis, Zeynep H. Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V. Hunter, Shalini N. Jhangiani, Jawid M. Fatih, Jill A. Rosenfeld, Jennifer E. Posey, Richard A. Gibbs, Ender Karaca, Sean Massey, Thisara G Ranasinghe, Patrick Sleiman, Chris Troedson, James R. Lupski, Michael Sacher, Nava Segev, Hákon Hákonarson, John Christodoulou
Vydáno 2019Artigo -
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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome Autor Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W.M. van Bon, Alper Gezdirici, Elif Yılmaz Güleç, Francis Ramond, Renaud Touraine, Julien Thévenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover‐Fong, Ceren Damla Durmaz, Halil Gürhan Karabulut, Ebru Marzioğlu Özdemir, Atilla Çayır, Mehmet Buğrahan Düz, Mehmet Seven, Susan Price, Bárbara Merfort Ferreira, Angela Maria Vianna‐Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N. Jhangiani, Richard A. Gibbs, Han G. Brunner, V. Reid Sutton, James R. Lupski, Claudia M.B. Carvalho
Vydáno 2017Artigo -
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Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function Autor Ender Karaca, Stefan Weitzer, Davut Pehli̇van, Hiroshi Shiraishi, Tasos Gogakos, Toshikatsu Hanada, Shalini N. Jhangiani, Wojciech Wiszniewski, Marjorie Withers, Ian M. Campbell, Serkan Erdin, Sedat Işıkay, Luis M. Franco, Claudia Gonzaga‐Jauregui, Tomasz Gambin, Violet Gelowani, Jill V. Hunter, Gözde Yeşil, Erkan Koparir, Sarenur Yılmaz, Miguel Brown, Daniel Briskin, Markus Hafner, Pavel Morozov, Thalia A. Farazi, Christian Bernreuther, Markus Glatzel, Siegfried Trattnig, Joachim Friske, Claudia Kronnerwetter, Matthew N. Bainbridge, Alper Gezdirici, Mehmet Seven, Donna M. Muzny, Eric Boerwinkle, Mustafa Özen, Tim Clausen, Thomas Tuschl, Adnan Yüksel, Andreas Heß, Richard A. Gibbs, Javier Martı́nez, Josef Penninger, James R. Lupski
Vydáno 2014Artigo -
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Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females Autor Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld, Carlos A. Bacino, Fernando Scaglia, LaDonna Immken, Jill M. Harris, Scott E. Hickey, Theresa Mihalic Mosher, Anne Slavotinek, Jing Zhang, Joke Beuten, Magalie S. Leduc, Weimin He, Francesco Vetrini, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Pengfei Liu, Yunru Shao, Alper Gezdirici, Elif Yılmaz Güleç, Yunyun Jiang, Sandra Darilek, Adam Hansen, Michael M. Khayat, Davut Pehli̇van, Juliette Piard, Donna M. Muzny, Neil A. Hanchard, John W. Belmont, Lionel Van Maldergem, Richard A. Gibbs, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Adekunle M. Adesina, Shan Chen, Yi‐Chien Lee, Brendan Lee, James R. Lupski, Christine M. Eng, Fan Xia, Yaping Yang, Brett H. Graham, Paolo Moretti
Vydáno 2018Artigo -
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The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance Autor Davut Pehli̇van, Yavuz Bayram, Nilay Güneş, Zeynep Coban‐Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Şahin, Alper Gezdirici, Jawid M. Fatih, Elif Yılmaz Güleç, Gözde Yeşil, Jaya Punetha, Zeynep Ocak, Christopher M. Grochowski, Ender Karaca, Hatice Mutlu Albayrak, Periyasamy Radhakrishnan, Haktan Bağış Erdem, İbrahim Şahin, Timur Yıldırım, Avni İlhan Bayhan, Ayşegül Bursalı, Muhsin Elmas, Zafer Yüksel, Öztürk Özdemir, Fatma Sılan, Onur Yıldız, Osman Yeşilbaş, Sedat Işıkay, Burhan Balta, Shen Gu, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Konstantinos Tsiakas, Maja Hempel, Katta M. Girisha, Davut Gül, Jennifer E. Posey, Nursel Elçioğlu, Beyhan Tüysüz, James R. Lupski
Vydáno 2019Artigo -
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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder Autor Caroline Dias, Jaya Punetha, Céline Zheng, Neda Mazaheri, Abolfazl Rad, Stéphanie Efthymiou, Andrea Petersen, Mohammadreza Dehghani, Davut Pehli̇van, Jennifer N. Partlow, Jennifer E. Posey, Vincenzo Salpietro, Alper Gezdirici, Reza Azizi Malamiri, Nihal M. Al Menabawy, Laila Selim, Mohammad Yahya Vahidi Mehrjardi, Selina Banu, D.L. Polla, Edward Yang, Jamileh Rezazadeh Varaghchi, Tadahiro Mitani, Ellen van Beusekom, Maryam Najafi, Alireza Sedaghat, Jennifer Keller‐Ramey, L. Kathryn Durham, Zeynep Coban‐Akdemir, Ender Karaca, Valeria V. Orlova, Lieke Schaeken, Amir Sherafat, Shalini N. Jhangiani, Valentina Stanley, Gholamreza Shariati, Hamid Galehdari, Joseph G. Gleeson, Christopher A. Walsh, James R. Lupski, Elena Seiradake, Henry Houlden, Hans van Bokhoven, Reza Maroofian
Vydáno 2019Artigo -
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population Autor Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih, Isabella Herman, Gülsen Akay, Haowei Du, Daniel G. Calame, Akif Ayaz, Tülay Tos, Gözde Yeşil, Hatip Aydın, Bilgen Bilge Geçkinli, Nursel Elçioğlu, Şükrü Candan, Özlem Sezer, Haktan Bağış Erdem, Davut Gül, Emine Demıral, Muhsin Elmas, Osman Yeşilbaş, Betül Kılıç, Serdal Güngör, Ahmet Cevdet Ceylan, Sevcan Tuğ Bozdoğan, Özge Özalp, Salih Cicek, Hüseyin Aslan, Sinem Yalçıntepe, Vehap Topçu, Yavuz Bayram, Christopher M. Grochowski, Angad Jolly, Moez Dawood, Ruizhi Duan, Shalini N. Jhangiani, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Dana Marafi, Zeynep Coban‐Akdemir, Ender Karaca, Claudia M.B. Carvalho, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Davut Pehli̇van
Vydáno 2021Artigo -
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Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome Autor Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Claudia M.B. Carvalho, Juliana F. Mazzeu
Vydáno 2022Artigo -
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Back Cover, Volume 43, Issue 7 Autor Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Angad Jolly, Haowei Du, Janson J. White, Moez Dawood, Tulio Cesar de Lima Lins, Marcela A. Chiabai, Ellen van Beusekom, Mara S. Córdoba, Érica Carine Campos Caldas Rosa, Hülya Kayserili, Virginia Kimonis, Erica Wu, Cecília Mellado, Vineet Aggarwal, Antônio Richieri‐Costa, Décio Brunoni, Talyta M. Canó, Alexander A.L. Jorge, Chong Ae Kim, Rachel Sayuri Honjo, Débora Romeo Bertola, Raissa M. Dandalo‐Girardi, Yavuz Bayram, Alper Gezdirici, Elif Yılmaz Güleç, Evren Gümüş, Gülay Can Yılmaz, Nobuhiko Okamoto, Hirofumi Ohashi, Zeynep Coban‐Akdemir, Tadahiro Mitani, Shalini N. Jhangiani, Donna M. Muzny, Neysa A.P. Regattieri, Robert Pogue, Rinaldo Wellerson Pereira, Paulo Alberto Otto, Richard A. Gibbs, Bassam R. Ali, Hans van Bokhoven, Han G. Brunner, V. Reid Sutton, James R. Lupski, Angela Maria Vianna‐Morgante, Cláudia Carvalho, Juliana F. Mazzeu
Vydáno 2022Paratexto -
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease Autor Ender Karaca, Tamar Harel, Davut Pehli̇van, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban‐Akdemir, Claudia Gonzaga‐Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Işıkay, Gözde Yeşil, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Hatip Aydın, Tülay Tos, Ayşe Aksoy, Darryl C. De Vivo, Preti Jain, Bilgen Bilge Geçkinli, Özlem Sezer, Davut Gül, Burak Durmaz, Özgür Çoğulu, Ferda Özkınay, Vehap Topçu, Şükrü Candan, Alper Han Çebi, Mevlit Íkbal, Elif Yılmaz Güleç, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coşkun, Salih Cicek, Kadri Karaer, Asuman Koparır, Mehmet Buğrahan Düz, Emre Kırat, Elif Fenercioğlu, Hakan Ulucan, Mehmet Seven, Tülay Güran, Nursel Elçioğlu, Mahmut Selman Yıldırım, Dilek Aktaş, Mehmet Alikaşifoĝlu, Mehmet Türe, Tahsin Yakut, John D. Overton, Adnan Yüksel, Mustafa Özen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R. Lupski
Vydáno 2015Artigo -
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants Autor Li Xin Zhang, Gabrielle Lemire, Claudia Gonzaga‐Jauregui, Sirinart Molidperee, Carolina Galaz-Montoya, David S. Liu, Alain Verloès, Amelle Shillington, Kosuke Izumi, Alyssa Ritter, Beth Keena, Elaine H. Zackai, Dong Li, Elizabeth Bhoj, Jennifer Tarpinian, Emma Bedoukian, Mary K. Kukolich, A. Micheil Innes, Grace U. Ediae, Sarah L. Sawyer, Karippoth Mohandas Nair, Para Chottil Soumya, Kinattinkara R. Subbaraman, Frank J. Probst, Jennifer A. Bassetti, Reid Sutton, Richard A. Gibbs, Chester Brown, Philip M. Boone, Ingrid A. Holm, Marco Tartaglia, Giovanni Battista Ferrero, Marcello Niceta, Maria Lisa Dentici, Francesca Clementina Radio, Boris Keren, Constance Wells, Christine Coubes, Annie Laquerrière, Jacqueline Aziza, Charlotte Dubucs, Sheela Nampoothiri, David Mowat, Millan S. Patel, Ana Bracho, Francisco Cammarata‐Scalisi, Alper Gezdirici, Alberto Fernández‐Jaén, Natalie Hauser, Yuri A. Zárate, Katherine A. Bosanko, Klaus Dieterich, John C. Carey, Jessica X. Chong, Deborah A. Nickerson, Michael J. Bamshad, Brendan Lee, Xiang-Jiao Yang, James R. Lupski, Philippe M. Campeau
Vydáno 2020Revisão -
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Arterial tortuosity syndrome: 40 new families and literature review Autor Aude Beyens, Juliette Albuisson, Annekatrien Boel, Mazen Al‐Essa, Waheed Al-Manea, Damien Bonnet, Özlem Bostan, Odile Boute, Tiffany Busa, N Canham, Ergün Çil, Paul Coucke, Margot A. Cousin, Majed Dasouki, Julie De Backer, Anne De Paepe, Sofie De Schepper, Deepthi De Silva, Koenraad Devriendt, Inge De Wandele, David R. Deyle, Harry C. Dietz, Sophie Dupuis‐Girod, Eudice Fontenot, Björn Fischer‐Zirnsak, Alper Gezdirici, Jamal Ghoumid, Fabienne Giuliano, Neus Baena Díez, Mohammed Z. Haider, Joshua S. Hardin, Xavier Jeunemaı̂tre, Eric W. Klee, Uwe Kornak, Manuel F. Landecho, Anne Debost‐Legrand, Bart Loeys, Stanislas Lyonnet, Helen Michael, Pamela Moceri, Shehla Mohammed, Laura Muiño Mosquera, Sheela Nampoothiri, Karin Pichler, Katrina Prescott, Anna Rajeb, María A. Ramos‐Arroyo, Massimiliano Rossi, Mustafa A. Salih, Mohammed Zain Seidahmed, Élise Schaefer, Elisabeth Steichen‐Gersdorf, Şehime Gülsün Temel, Fahrettin Uysal, Marine Vanhomwegen, Lut Van Laer, Lionel Van Maldergem, David Warner, Andy Willaert, Tom R. Collins, Andrea Taylor, Elaine C. Davis, Yuri A. Zárate, Bert Callewaert
Vydáno 2018Artigo -
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome Autor David A. Dyment, Anne O’Donnell‐Luria, Pankaj B. Agrawal, Zeynep Coban‐Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping Yee Billie Au, Hatip Aydın, Alan H. Beggs, Kaya Bilgüvar, Eric Boerwinkle, Harrison Brand, Catherine A. Brownstein, Steven Buyske, Bernard Chodirker, Jungmin Choi, Albert E. Chudley, Carol L. Clericuzio, Gerald F. Cox, Cynthia J. Curry, Elke de Boer, Bert B.A. de Vries, Kathryn Dunn, Cullen M. Dutmer, Eleina England, Jill A. Fahrner, Bilgen Bilge Geçkinli, Casie A. Genetti, Alper Gezdirici, William T. Gibson, Joseph G. Gleeson, Cheryl R. Greenberg, April Hall, Ada Hamosh, Taila Hartley, Shalini N. Jhangiani, Ender Karaca, Kristin D. Kernohan, Julie Lauzon, M. E. Suzanne Lewis, R. Brian Lowry, Francesc López‐Giráldez, Tara C. Matise, Jennifer McEvoy‐Venneri, Brenda McInnes, Aziz Mhanni, Sixto García Miñaúr, Jukka S. Moilanen, An Nguyen, Małgorzata J.M. Nowaczyk, Jennifer E. Posey, Katrin Õunap, Davut Pehli̇van, Sander Pajusalu, Lynette S. Penney, Timothy Poterba, Paolo Prontera, Maria Juliana Rodovalho Doriqui, Sarah L. Sawyer, Nara Sobreira, Valentina Stanley, Deniz Torun, David S. Wargowski, P. Dane Witmer, Isaac Wong, Jinchuan Xing, Maha S. Zaki, Yeting Zhang, Kym M. Boycott, Michael J. Bamshad, Deborah A. Nickerson, Elizabeth Blue, A. Micheil Innes
Vydáno 2020Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Phenotype
Allele
Exome sequencing
Mutation
Neuroscience
Anatomy
Bioinformatics
Candidate gene
Disease
Genetic heterogeneity
Genome
Internal medicine
Pathology
Arthrogryposis
Cell biology
Cilium
Computational biology
Copy-number variation
Disease gene identification
Endocrinology
Environmental health
Etiology
Exome
Exon
Function (biology)
Genomics