Search Results - Mohammad K. Eldomery

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  1. 1
    Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity

    Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity by Khaleel I. Al‐Obaidy, John N. Eble, Mehdi Nassiri, Liang Cheng, Mohammad K. Eldomery, Sean R. Williamson, Wael Sakr, Nilesh Gupta, Oudai Hassan, Muhammad T. Idrees, David J. Grignon

    Published 2019
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  2. 2
    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

    Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort by Tomasz Gambin, Zeynep Coban‐Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M.B. Carvalho, Chad A. Shaw, Shalini N. Jhangiani, Philip M. Boone, Mohammad K. Eldomery, Ender Karaca, Yavuz Bayram, Asbjørg Stray‐Pedersen, Donna M. Muzny, Wu‐Lin Charng, Vahid Bahrambeigi, John W. Belmont, Eric Boerwinkle, Arthur L. Beaudet, Richard A. Gibbs, James R. Lupski

    Published 2016
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  3. 3
    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

    Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially by Xi Luo, Jill A. Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J. Wierenga, Matthew Pastore, Dennis Bartholomew, Mauricio R. Delgado, Joshua Rotenberg, Richard A. Lewis, Lisa Emrick, Carlos A. Bacino, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Fan Xia, Yaping Yang, Seema R. Lalani, Timothy Lotze, James R. Lupski, Brendan Lee, Hugo J. Bellen, Michael F. Wangler

    Published 2017
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  4. 4
    Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

    Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy by Tamar Harel, Gözde Yeşil, Yavuz Bayram, Zeynep Coban‐Akdemir, Wu‐Lin Charng, Ender Karaca, Ali Al Asmari, Mohammad K. Eldomery, Jill V. Hunter, Shalini N. Jhangiani, Jill A. Rosenfeld, Davut Pehli̇van, Ayman W. El‐Hattab, Mohammed A. Saleh, Charles A. LeDuc, Donna M. Muzny, Eric Boerwinkle, Richard A. Gibbs, Wendy K. Chung, Yaping Yang, John W. Belmont, James R. Lupski

    Published 2016
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  5. 5
    Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

    Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans by Francesco Vetrini, Lisa C.A. D’Alessandro, Zeynep Coban‐Akdemir, Alicia Braxton, Mahshid S. Azamian, Mohammad K. Eldomery, Kathryn Miller, Chelsea Kois, Virginia Sack, Natasha Shur, Asha Rijhsinghani, Jignesh Chandarana, Yan Ding, Judy Holtzman, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Christine M. Eng, Neil A. Hanchard, Tamar Harel, Jill A. Rosenfeld, John W. Belmont, James R. Lupski, Yaping Yang

    Published 2016
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  6. 6
    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death by Mohammad K. Eldomery, Zeynep Coban‐Akdemir, F.‐Nora Vögtle, Wu‐Lin Charng, Patrycja Mulica, Jill A. Rosenfeld, Tomasz Gambin, Shen Gu, Lindsay C. Burrage, Aisha Al Shamsi, Samantha Penney, Shalini N. Jhangiani, Holly H. Zimmerman, Donna M. Muzny, Xia Wang, Jia Tang, Ravi Medikonda, Prasanna Venkatesh Ramachandran, Lee-Jun Wong, Eric Boerwinkle, Richard A. Gibbs, Christine M. Eng, Seema R. Lalani, Jozef Hertecant, Richard J. Rodenburg, Omar Abdul‐Rahman, Yaping Yang, Fan Xia, Meng C. Wang, James R. Lupski, Chris Meisinger, V. Reid Sutton

    Published 2016
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  7. 7
    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism by Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche

    Published 2016
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  8. 8
    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

    GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability by Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A. Nannenberg, Lamiae Boualla, Nico A. Blom, Wim de Graaff, Maarten Kamermans, Dario Cocciadiferro, Natascia Malerba, Barbara Mandriani, Zeynep H. Coban Akdemir, Richard J. Fish, Mohammad K. Eldomery, Ilham Ratbi, Arthur A.M. Wilde, Teun P. de Boer, William F. Simonds, Marguerite Neerman‐Arbez, V. Reid Sutton, Fernando Kok, James R. Lupski, Alexandre Reymond, Connie R. Bezzina, Jeroen Bakkers, Giuseppe Merla

    Published 2016
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  9. 9
    Lessons learned from additional research analyses of unsolved clinical exome cases

    Lessons learned from additional research analyses of unsolved clinical exome cases by Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel, Jill A. Rosenfeld, Tomasz Gambin, Asbjørg Stray‐Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R. Lalani, Christian P. Schaaf, Michael F. Wangler, Carlos A. Bacino, Richard A. Lewis, Lorraine Potocki, Brett H. Graham, John W. Belmont, Fernando Scaglia, Jordan S. Orange, Shalini N. Jhangiani, Theodore Chiang, HarshaVardhan Doddapaneni, Jianhong Hu, Donna M. Muzny, Fan Xia, Arthur L. Beaudet, Eric Boerwinkle, Christine M. Eng, Sharon E. Plon, V. Reid Sutton, Richard A. Gibbs, Jennifer E. Posey, Yaping Yang, James R. Lupski

    Published 2017
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  10. 10
    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder by Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin, Alexander P.A. Stegmann, Erica H. Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah‐Politi, Tim M. Strom, Jill A. Rosenfeld, Yaping Yang, Jennifer E. Posey, LaDonna Immken, Nelly Jouayed Oundjian, Katherine L. Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda Schieving, Ana M. Claasen, Matthew J. Huentelman, Vinodh Narayanan, Keri Ramsey, Han G. Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R. Lupski, Hans‐Jürgen Kreienkamp

    Published 2017
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  11. 11
    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females

    Phenotypic expansion in <i><scp>DDX</scp>3X</i> – a common cause of intellectual disability in females by 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

    Published 2018
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  12. 12
    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

    Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes by Tamar Harel, Wan Hee Yoon, Caterina Garone, Shen Gu, Zeynep Coban‐Akdemir, Mohammad K. Eldomery, Jennifer E. Posey, Shalini N. Jhangiani, Jill A. Rosenfeld, Megan T. Cho, Stéphanie Fox, Marjorie Withers, Stephanie Brooks, Theodore Chiang, Lita Duraine, Serkan Erdin, Bo Yuan, Yunru Shao, Elie Moussallem, Costanza Lamperti, Maria Alice Donati, Joshua D. Smith, Heather M. McLaughlin, Christine M. Eng, Magdalena Walkiewicz, Fan Xia, Tommaso Pippucci, Pamela Magini, Marco Seri, Massimo Zeviani, Michio Hirano, Jill V. Hunter, Myriam Srour, Stefano Zanigni, Richard A. Lewis, Donna M. Muzny, Timothy Lotze, Eric Boerwinkle, Richard A. Gibbs, Scott E. Hickey, Brett H. Graham, Yaping Yang, Daniela Buhaş, Donna M. Martin, Lorraine Potocki, Claudio Graziano, Hugo J. Bellen, James R. Lupski

    Published 2016
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  13. 13
    Abstracts from USCAP 2020: Hematopathology (1316-1502)

    Abstracts from USCAP 2020: Hematopathology (1316-1502) by Jason L. Hornick, Rhonda K. Yantiss, Laura W. Lamps, Cme Subcommittee, Steven D. Billings, Raja R. Seethala, Ilan Weinreb, David Kaminsky, Zubair Baloch, Daniel J. Brat, Ashley Cimino‐Mathews, James R. Cook, Sarah Dry, William C. Faquin, Yuri Fedoriw, Karen Fritchie, Lakshmi Priya, Kunju Anna, Marie Mulligan, Rish K. Pai, David Papke, Vinita Parkash, Carlos Parra‐Herran, Anil V. Parwani, Sohaib Abu‐Farsakh, Aaron Phelan, Mohammad K. Eldomery, Shanxiang Zhang, Magdalena Czader, Ibrahim Abukhiran, Carol Holman, Sergei Syrbu, Aadil Ahmed, Don X. Nguyen, Mina L. Xu, Fahad Shabbir Ahmed, Yuan Ji, Philippa Li, Kai Fu, Guohua Yu, Hongxia Cheng, David L. Rimm, Zenggang Pan, Ariz Akhter, Ghaleb Elyamany, Rasha Elgamal, Meer‐Taher Shabani‐Rad, Adnan Mansoor

    Published 2020
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  14. 14
    Abstracts from USCAP 2020: Hematopathology (1316-1502)

    Abstracts from USCAP 2020: Hematopathology (1316-1502) by Jason L. Hornick, Rhonda K. Yantiss, Laura W. Lamps, Cme Subcommittee, Steven D. Billings, Raja R. Seethala, Ilan Weinreb, David Kaminsky, Zubair Baloch, Daniel J. Brat, Ashley Cimino‐Mathews, James R. Cook, Sarah Dry, William C. Faquin, Yuri Fedoriw, Karen Fritchie, Lakshmi Priya, Kunju Anna, Marie Mulligan, Rish K. Pai, David Papke, Vinita Parkash, Carlos Parra‐Herran, Anil V. Parwani, Sohaib Abu‐Farsakh, Aaron Phelan, Mohammad K. Eldomery, Shanxiang Zhang, Magdalena Czader, Ibrahim Abukhiran, Carol Holman, Sergei Syrbu, Aadil Ahmed, Don X. Nguyen, Mina L. Xu, Fahad Shabbir Ahmed, Yuan Ji, Philippa Li, Kai Fu, Guohua Yu, Hongxia Cheng, David L. Rimm, Zenggang Pan, Ariz Akhter, Ghaleb Elyamany, Rasha Elgamal, Meer‐Taher Shabani‐Rad, Adnan Mansoor

    Published 2020
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  15. 15
    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations by Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep H. Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid S. Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus A. Wilfong, Hope Northrup, Adekunle M. Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane E. Crosson, Jessica Duis, Gustavo Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett H. Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

    Published 2016
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  16. 16
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies by Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Published 2018
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  17. 17
    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders by Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug K. Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla M. Davis, Debra Canter, Emily M. Mace, Timothy J. Vece, Carl E. Allen, Harshal Abhyankar, Philip M. Boone, Christine R. Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E. Tjønnfjord, Tobias Gedde‐Dahl, Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski

    Published 2016
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  18. 18
    Centers for Mendelian Genomics: A decade of facilitating gene discovery

    Centers for Mendelian Genomics: A decade of facilitating gene discovery by Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci

    Published 2022
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