Хайлтын үр дүнгүүд - Dusica Babovic‐Vuksanovic
- 21-н 1 - 20 үр дүнгүүдийг харуулж байна
- Дараагийн хуудас руу очих
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Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the... -н Charu Kaiwar, Michael T. Zimmermann, Matthew J. Ferber, Zhiyv Niu, Raúl Urrutia, Eric W. Klee, Dusica Babovic‐Vuksanovic
Хэвлэсэн 2017Revisão -
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Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV -н Ulrike Schwarze, Wouter I. Schievink, Elizabeth M. Petty, Michael R. Jaff, Dusica Babovic‐Vuksanovic, Kenneth J. Cherry, Melanie Pepin, Peter H. Byers
Хэвлэсэн 2001Artigo -
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Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency -н Morten J. Corydon, Jerry Vockley, Piero Rinaldo, William J. Rhead, Margrethe Kjeldsen, Vibeke Winter, Charles E. Riggs, Dusica Babovic‐Vuksanovic, Jan Smeitink, Jan de Jong, Harvey L. Levy, A Sewell, Charles R. Roe, Dietrich Matern, Majed Dasouki, Niels Gregersen
Хэвлэсэн 2001Artigo -
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Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation -н Luis V. Syro, Jamie L. Sundsbak, Bernd W. Scheithauer, Rodrigo A. Toledo, Maurício Camargo, Christina M. Heyer, Tomoko Sekiya, Humberto Uribe, Jorge I. Escobar, Martín E. Vásquez, Fabio Rotondo, S. P. A. Toledo, Kálmán Kovács, Éva Horváth, Dusica Babovic‐Vuksanovic, Peter C. Harris
Хэвлэсэн 2011Artigo -
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Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas -н Brigitte C. Widemann, Dusica Babovic‐Vuksanovic, Eva Dombi, Pamela L. Wolters, Stewart Goldman, Staci Martin, Anne Goodwin, Wendy Goodspeed, Mark W. Kieran, Bruce H. Cohen, Susan M. Blaney, Allison A. King, Jeffrey Solomon, Nicholas J. Patronas, Frank M. Balis, Elizabeth Fox, Seth M. Steinberg, Roger J. Packer
Хэвлэсэн 2014Artigo -
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Recommendations for imaging tumor response in neurofibromatosis clinical trials -н Eva Dombi, Simone Ardern‐Holmes, Dusica Babovic‐Vuksanovic, Fred G. Barker, Steve Connor, D. Gareth Evans, Michael J. Fisher, Stéphane Goutagny, Gordon J. Harris, Diego Jaramillo, Matthias A. Karajannis, Bruce R. Korf, Victor Mautner, Scott R. Plotkin, Tina Young Poussaint, Kent A. Robertson, Chie‐Schin Shih, Brigitte C. Widemann
Хэвлэсэн 2013Artigo -
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas -н Arkadiusz Piotrowski, Jing Xie, Ying F Liu, Andrzej Poplawski, Alicia Gomes, Piotr Madanecki, Chuanhua Fu, Michael R. Crowley, David K. Crossman, Linlea Armstrong, Dusica Babovic‐Vuksanovic, Amanda Bergner, Jaishri O. Blakeley, Andrea Blumenthal, Molly S. Daniels, Howard Feit, Kathy Gardner, Stephanie Hurst, Christine Kobelka, Chung Lee, Rebecca Nagy, Katherine A. Rauen, John M. Slopis, Pim Suwannarat, Judith A. Westman, Andrea Zanko, Bruce R. Korf, Ludwine Messiaen
Хэвлэсэн 2013Artigo -
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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder -н Vincent Cantagrel, Dirk J. Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut‐Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R.H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson
Хэвлэсэн 2010Artigo -
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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes -н Bergithe E Oftedal, Kristian Assing, Safa Barış, Stephanie L. Safgren, Işık Somuncu Johansen, Marianne Antonius Jakobsen, Dusica Babovic‐Vuksanovic, Katherine Agre, Eric W. Klee, Emina Majcic, Elise M. N. Ferré, Monica M. Schmitt, Tom DiMaggio, Lindsey B. Rosen, Muhammad Obaidur Rahman, Dionisios Chrysis, Aristeidis Giannakopoulos, Maria Tallon Garcia, Luis Ignacio González‐Granado, Katherine Stanley, Jessica Galant-Swafford, Pim Suwannarat, Isabelle Meyts, Michail S. Lionakis, Eystein S. Husebye
Хэвлэсэн 2023Artigo -
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Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction -н Katrin Koehler, Meera Malik, Saqib Mahmood, Sebastian Gießelmann, Christian Beetz, J. Christopher Hennings, Antje K. Huebner, Ammi Grahn, Janine Reunert, Gudrun Nürnberg, Hölger Thiele, Janine Altmüller, Peter Nürnberg, Rizwan Mumtaz, Dusica Babovic‐Vuksanovic, Lina Basel‐Vanagaite, Guntram Borck, Jürgen Brämswig, R. Mühlenberg, Pierre Sarda, Alma Sikiric, Kwame Anyane‐Yeboa, Avraham Zeharia, Arsalan Ahmad, Christine Coubes, Yoshinao Wada, Thorsten Marquardt, Dieter Vanderschaeghe, Emile Van Schaftingen, Ingo Kurth, Angela Huebner, Christian A. Hübner
Хэвлэсэн 2013Artigo -
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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism -н Éva Morava, Ron A. Wevers, Vincent Cantagrel, Lies H. Hoefsloot, Lihadh Al‐Gazali, Jeroen Schoots, Arno van Rooij, Karin Huijben, Connie M. A. van Ravenswaaij-Arts, Marjolein Jongmans, Jolanta Sykut‐Cegielska, Georg F. Hoffmann, Peter Bluemel, Maciej Adamowicz, Jeroen van Reeuwijk, Bobby G. Ng, Jorieke E. H. Bergman, Hans van Bokhoven, Christian Körner, Dusica Babovic‐Vuksanovic, Michèl A.A.P. Willemsen, Joseph G. Gleeson, Ludwig Lehle, Arjan P.M. de Brouwer, Dirk J. Lefeber
Хэвлэсэн 2010Artigo -
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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen -н U. Schwarze, Tim Cundy, Shawna M. Pyott, H. E. Christiansen, Madhuri Hegde, Ruud A. Bank, Gerard Pals, Arunkanth Ankala, Karen N. Conneely, Laurie Seaver, Suzanne M. Yandow, Ellen M. Raney, Dusica Babovic‐Vuksanovic, Joan M. Stoler, Ziva Ben‐Neriah, Reeval Segel, Sari Lieberman, Liesbeth Siderius, Aida I. Al‐Aqeel, Mark C. Hannibal, Lucas Hudgins, Elizabeth McPherson, Michele Clemens, Michael D. Sussman, Robert D. Steiner, John D. Mahan, Rosemarie Smith, Kwame Anyane‐Yeboa, Julia Wynn, Karen Chong, Tami Uster, Salim Aftimos, V. Reid Sutton, Elise Davis, In S. Kim, Mary Ann Weis, David R. Eyre, Peter H. Byers
Хэвлэсэн 2012Artigo -
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KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants -н Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tiong Yang Tan, Patrick Yap, Zornitza Stark, Nobuhiko Okamoto, Noriko Miyake, Naomichi Matsumoto, Ellen F. Macnamara, Jennifer L. Murphy, Elizabeth M. McCormick, Hákon Hákonarson, Marni J. Falk, Dong Li, Patrick R. Blackburn, Eric W. Klee, Dusica Babovic‐Vuksanovic, Susan Schelley, Louanne Hudgins, Sarina G. Kant, Bertrand Isidor, Benjamin Cogné, Kimberley Bradbury, Mark Williams, Chirag Patel, Helen Heussler, Celia Duff‐Farrier, Phillis Lakeman, Ingrid Scurr, Usha Kini, Mariet Elting, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Mohamed Wafik, Anne Blomhoff, Claudia Ruivenkamp, Esther Nibbeling, Alexander J.M. Dingemans, Emilie D. Douine, Stanley F. Nelson, Maja Hempel, Tatjana Bierhals, Davor Lessel, Jessika Johannsen, Valerie A. Arboleda, Ruth Newbury‐Ecob
Хэвлэсэн 2018Artigo -
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Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development -н Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau, Kimberly A. Aldinger, Ching Moey, Iryna Lobach, Alexandra Afenjar, Dusica Babovic‐Vuksanovic, Stéphane Bézieau, Patrick R. Blackburn, Jens Bunt, Lydie Bürglen, Philippe M. Campeau, Perrine Charles, Brian Hon‐Yin Chung, Benjamin Cogné, Cynthia J. Curry, Daniela D’Agostino, Nataliya Di Donato, Laurence Faivre, Delphine Héron, A. Micheil Innes, Bertrand Isidor, Boris Keren, Amy Kimball, Eric W. Klee, Paul Kuentz, Sébastien Küry, Dominique Martin–Coignard, Ghayda Mirzaa, Cyril Mignot, Noriko Miyake, Naomichi Matsumoto, Atsushi Fujita, Caroline Nava, Mathilde Nizon, Diana Rodriguez, Lot Snijders Blok, Christel Thauvin‐Robinet, Julien Thévenon, Marie Vincent, Alban Ziegler, William B. Dobyns, Linda J. Richards, A. James Barkovich, Stephen N. Floor, Debra L. Silver, Elliott H. Sherr
Хэвлэсэн 2020Artigo -
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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... -н Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, J. Nicholas Cochran, Mary‐Alice Abbott, Joan Atkin, Dusica Babovic‐Vuksanovic, Christopher Barnett, Melissa Crenshaw, Dennis W. Bartholomew, Lina Basel, Gary A. Bellus, Shay Ben‐Shachar, Martin G. Bialer, David Bick, Bruce Blumberg, Fanny Cortés, Karen L. David, Anne Destrèe, Anna Duat Rodríguez, Dawn Earl, Luis Escobar, Marthanda Eswara, Begoña Ezquieta, Ian M. Frayling, Moshe Frydman, Kathy Gardner, Karen W. Gripp, Concepción Hernández‐Chico, Kurt Heyrman, Jennifer Ibrahim, Sandra Janssens, Beth Keena, Isabel Llano‐Rivas, Kathy Leppig, Marie McDonald, Vinod K. Misra, Jennifer Mulbury, Vinodh Narayanan, Naama Orenstein, Patricia Galvin‐Parton, Hélio Pedro, Enikö K. Pivnick, Cynthia M. Powell, Linda M. Randolph, Salmo Raskin, Jordi Rosell, Karol Rubin, Margretta R. Seashore, Christian P. Schaaf, Angela E. Scheuerle, Meredith Schultz, Elizabeth K. Schorry, Rhonda E. Schnur, Elizabeth Siqveland, Amanda Tkachuk, James H. Tonsgard, Meena Upadhyaya, Ishwar C. Verma, Stephanie E Wallace, Charles A. Williams, Elaine H. Zackai, Jonathan Zonana, Conxi Lázaro, Kathleen Claes, Bruce R. Korf, Yolanda Martín, Eric Legius, Ludwine Messiaen
Хэвлэсэн 2015Artigo -
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Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation -н Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Miriam J. Smith, Anat Stemmer‐Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan Huson, P. Wolkenstein, D. Gareth Evans, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, K.H. Ly, Justin T. Jordan, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh
Хэвлэсэн 2022Artigo -
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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation -н Eric Legius, Ludwine Messiaen, P. Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Karin Soares Cunha, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Anat Stemmer‐Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David A. Stevenson, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C. Oliver Hanemann, Helen Hanson, Arvid Heiberg, K.H. Ly, Michel Kalamarides, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan Huson, D. Gareth Evans, Scott R. Plotkin
Хэвлэсэн 2021Artigo -
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Patient-reported outcomes of pain and physical functioning in neurofibromatosis clinical trials -н Pamela L. Wolters, Staci Martin, Vanessa L. Merker, James H. Tonsgard, Sondra E. Solomon, Andrea Baldwin, Amanda Bergner, Karin S. Walsh, Heather L. Thompson, Kathy Gardner, Cynthia M. Hingtgen, Elizabeth K. Schorry, William N. Dudley, Barbara Franklin, Shivani Ahlawat, Srivandana Akshintala, Jeffrey C. Allen, Simone Ardern‐Holmes, Robert A. Avery, Amedeo A. Azizi, Dusica Babovic‐Vuksanovic, Annette Bakker, Andrea Baldwin, Fred G. Barker, Amanda Bergner, Chetan Bettegowda, Sucharita Bhaumik, Larissa T. Bilaniuk, Kim Bischoff, Jaishri Blakely, Diana Bradford, Miriam A. Bredella, Wenli Cai, John Carino, Avneesh Chabra, Patricia Ciavarelli, Wade Clapp, Steve Connor, Albert Cornelius, Tambra Dahlheimer, Stephanie H. Davis, Peter de Blank, Vidya Dhote, Joni K. Doherty, Eva Dombi, William N. Dudley, Rachel Ershler, D. Gareth Evans, Laura M. Fayad, Cristina Fernández‐Valle, Rosalie E. Ferner, Michael J. Fisher, Barbara Franklin, Giulia Fulci, Tracy Galloway, Kathy Gardner, Richard Gedrich, Marco Giovannini, Amy Goldstein, Anne Goodwin, Stéphane Goutagny, David H. Gutmann, Theresa Hadlock, Chris Halpin, C. Oliver Hanemann, Kristina K. Hardy, Gordon J. Harris, Desiree Headley, Gena Heidary, Jonathan Heller, Cynthia M. Hingtgen, Trent R. Hummel, Susan Huson, Michael A. Jacobs, Jennifer Janusz, Diego Jaramillo, Justin T. Jordan, Allen Julian, Michel Kalamarides, Matthias A. Karajannis, Bonnie Klein-Tasman, Pamela Knight, Bruce R. Korf, Shannon Langmead, Theresa LaVallee, Fawn Leigh, Donita Lightner, Carol Lin, Robert Listernick, Grant Liu, Mevo Marco, Carole L. Marcus, Gabriella Mariani, Staci Martin, Victor Mautner, Vanessa L. Merker, Michael J. Ferguson, Chris Moertel, Jill A. Morris, Katrina Morris
Хэвлэсэн 2016Artigo -
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Current whole-body MRI applications in the neurofibromatoses -н Shivani Ahlawat, Laura M. Fayad, Muhammad Shayan Khan, Miriam A. Bredella, Gordon J. Harris, D. Gareth Evans, Said Farschtschi, Michael A. Jacobs, Avneesh Chhabra, Johannes Salamon, Ralph Wenzel, Victor F. Mautner, Eva Dombi, Wenli Cai, Scott R. Plotkin, Jaishri O. Blakeley, Shivani Ahlawat, Srivandana Akshintala, Jeffrey C. Allen, Simone Ardern‐Holmes, Robert A. Avery, Amedeo A. Azizi, Dusica Babovic‐Vuksanovic, Annette Bakker, Andrea Baldwin, Fred G. Barker, Amanda Bergner, Chetan Bettegowda, Sucharita Bhaumik, Larissa T. Bilaniuk, Kim Bischoff, Jaishri Blakely, Diana Bradford, Miriam A. Bredella, Wenli Cai, John Carino, Avneesh Chabra, Patricia Ciavarelli, Wade Clapp, Steve Connor, Albert Cornelius, Tambra Dahlheimer, Stephanie H. Davis, Peter de Blank, Vidya Dhote, Joni K. Doherty, Eva Dombi, William N. Dudley, Rachel Ershler, D. Gareth Evans, Laura M. Fayad, Cristina Fernández‐Valle, Rosalie E. Ferner, Michael J. Fisher, Barbara Franklin, Giulia Fulci, Tracy Galloway, Kathy Gardner, Richard Gedrich, Marco Giovannini, Amy Goldstein, Anne Goodwin, Stéphane Goutagny, David H. Gutmann, Theresa Hadlock, Chris Halpin, C. Oliver Hanemann, Kristina K. Hardy, Gordon J. Harris, Desiree Headley, Gena Heidary, Jonathan Heller, Cynthia M. Hingtgen, Trent R. Hummel, Susan Huson, Michael A. Jacobs, Jennifer Janusz, Diego Jaramillo, Justin T. Jordan, Allen Julian, Michel Kalamarides, Matthias A. Karajannis, Bonnie Klein-Tasman, Pamela Knight, Bruce R. Korf, Shannon Langmead, Theresa LaVallee, Fawn Leigh, Donita Lightner, Carol Lin, Robert Listernick, Grant Liu, Mevo Marco, Carole L. Marcus, Gabriella Mariani, Staci Martin, Victor Mautner, Vanessa L. Merker, Michael J. Ferguson, Chris Moertel
Хэвлэсэн 2016Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Medicine
Biology
Genetics
Gene
Internal medicine
Pathology
Neurofibromatosis
Phenotype
Missense mutation
Endocrinology
Mutation
Allele
Clinical trial
Genotype
Glycosylation
Artificial intelligence
Biochemistry
Biosynthesis
Cohort
Compound heterozygosity
Computer science
Delphi method
Disease
Dolichol
Environmental health
Gastroenterology
Genetic testing
Haploinsufficiency
Immunology
Neurofibromatosis type 2