Zobrazeno 1 - 10
of 14
pro vyhledávání: '"de Vries, Bert Ba"'
Autor:
Köhler, Sebastian, Vasilevsky, Nicole A, Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M, Boerkoel, Cornelius F, Boycott, Kym M, Brudno, Michael, Buske, Orion J, Chinnery, Patrick F, Cipriani, Valentina, Connell, Laureen E, Dawkins, Hugh JS, DeMare, Laura E, Devereau, Andrew D, De Vries, Bert BA, Firth, Helen V, Freson, Kathleen, Greene, Daniel, Hamosh, Ada, Helbig, Ingo, Hum, Courtney, Jähn, Johanna A, James, Roger, Krause, Roland, F Laulederkind, Stanley J, Lochmüller, Hanns, Lyon, Gholson J, Ogishima, Soichi, Olry, Annie, Ouwehand, Willem H, Pontikos, Nikolas, Rath, Ana, Schaefer, Franz, Scott, Richard H, Segal, Michael, Sergouniotis, Panagiotis I, Sever, Richard, Smith, Cynthia L, Straub, Volker, Thompson, Rachel, Turner, Catherine, Turro, Ernest, Veltman, Marijcke WM, Vulliamy, Tom, Yu, Jing, Von Ziegenweidt, Julie, Zankl, Andreas, Züchner, Stephan, Zemojtel, Tomasz, Jacobsen, Julius OB, Groza, Tudor, Smedley, Damian, Mungall, Christopher J, Haendel, Melissa, Robinson, Peter N
Publikováno v:
Nucleic acids research, vol 45, iss D1
Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.hum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a81d06ba0febb302149300b2e989da0b
https://escholarship.org/uc/item/2w17n1nt
https://escholarship.org/uc/item/2w17n1nt
Autor:
Kim, Jung-Hyun, Shinde, Deepali N, Reijnders, Margot RF, Hauser, Natalie S, Belmonte, Rebecca L, Wilson, Gregory R, Bosch, Daniëlle GM, Bubulya, Paula A, Shashi, Vandana, Petrovski, Slavé, Stone, Joshua K, Park, Eun Young, Veltman, Joris A, Sinnema, Margje, Stumpel, Connie TRM, Draaisma, Jos M, Nicolai, Joost, University of Washington Center for Mendelian Genomics, Yntema, Helger G, Lindstrom, Kristin, de Vries, Bert BA, Jewett, Tamison, Santoro, Stephanie L, Vogt, Julie, Deciphering Developmental Disorders Study, Bachman, Kristine K, Seeley, Andrea H, Krokosky, Alyson, Turner, Clesson, Rohena, Luis, Hempel, Maja, Kortüm, Fanny, Lessel, Davor, Neu, Axel, Strom, Tim M, Wieczorek, Dagmar, Bramswig, Nuria, Laccone, Franco A, Behunova, Jana, Rehder, Helga, Gordon, Christopher T, Rio, Marlène, Romana, Serge, Tang, Sha, El-Khechen, Dima, Cho, Megan T, McWalter, Kirsty, Douglas, Ganka, Baskin, Berivan, Begtrup, Amber, Funari, Tara, Schoch, Kelly, Stegmann, Alexander PA, Stevens, Servi JC, Zhang, Dong-Er, Traver, David, Yao, Xu, MacArthur, Daniel G, Brunner, Han G, Mancini, Grazia M, Myers, Richard M, Owen, Laurie B, Lim, Ssang-Taek, Stachura, David L, Vissers, Lisenka ELM, Ahn, Eun-Young Erin
Publikováno v:
American journal of human genetics, vol 99, iss 3
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing technologies identify genetic variants in individuals with such disorders. However, detaile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ddbeb120ccc73f1bda52af5a65cca88f
https://escholarship.org/uc/item/27g3h88z
https://escholarship.org/uc/item/27g3h88z
Autor:
Koolen, David A, Pfundt, Rolph, Linda, Katrin, Beunders, Gea, Veenstra-Knol, Hermine E, Conta, Jessie H, Fortuna, Ana Maria, Gillessen-Kaesbach, Gabriele, Dugan, Sarah, Halbach, Sara, Abdul-Rahman, Omar A, Winesett, Heather M, Chung, Wendy K, Dalton, Marguerite, Dimova, Petia S, Mattina, Teresa, Prescott, Katrina, Zhang, Hui Z, Saal, Howard M, Hehir-Kwa, Jayne Y, Willemsen, Marjolein H, Ockeloen, Charlotte W, Jongmans, Marjolijn C, Van der Aa, Nathalie, Failla, Pinella, Barone, Concetta, Avola, Emanuela, Brooks, Alice S, Kant, Sarina G, Gerkes, Erica H, Firth, Helen V, Õunap, Katrin, Bird, Lynne M, Masser-Frye, Diane, Friedman, Jennifer R, Sokunbi, Modupe A, Dixit, Abhijit, Splitt, Miranda, Kukolich, Mary K, McGaughran, Julie, Coe, Bradley P, Flórez, Jesús, Nadif Kasri, Nael, Brunner, Han G, Thompson, Elizabeth M, Gecz, Jozef, Romano, Corrado, Eichler, Evan E, de Vries, Bert BA
Publikováno v:
European Journal of Human Genetics: EJHG; May 2016, Vol. 24 Issue: 5 p652-659, 8p
Autor:
Bosch, Daniëlle GM, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, de Vries, Bert BA
Publikováno v:
European Journal of Human Genetics: EJHG; May 2016, Vol. 24 Issue: 5 p660-665, 6p
Autor:
de Brouwer, Arjan PM, Nabuurs, Sander B, Verhaart, Ingrid EC, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert BA, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben CJ, van Bokhoven, Hans, Kleefstra, Tjitske
Publikováno v:
European Journal of Human Genetics; Apr2014, Vol. 22 Issue 4, p480-485, 6p
Autor:
Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J
Publikováno v:
European Journal of Human Genetics; Jul2012, Vol. 20 Issue 7, p729-733, 5p
Akademický článek
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Autor:
Bosch, Daniëlle Gm, Boonstra, F Nienke, Willemsen, Michèl Aap, Cremers, Frans Pm, de Vries, Bert Ba, Bosch, Daniëlle G M, Willemsen, Michèl A A P, Cremers, Frans P M, de Vries, Bert B A
Publikováno v:
BMC Ophthalmology; 2014, Vol. 14 Issue 1, p59-59, 1p
Publikováno v:
American Journal of Medical Genetics. Part A; Mar2017, Vol. 173 Issue 3, p790-800, 11p
Autor:
Lindgren, Amelia, Hoyos, Tatiana, Talkowski, Michael, Hanscom, Carrie, Blumenthal, Ian, Chiang, Colby, Ernst, Carl, Pereira, Shahrin, Ordulu, Zehra, Clericuzio, Carol, Drautz, Joanne, Rosenfeld, Jill, Shaffer, Lisa, Velsher, Lea, Pynn, Tania, Vermeesch, Joris, Harris, David, Gusella, James, Liao, Eric, Morton, Cynthia
Publikováno v:
Human Genetics; May2013, Vol. 132 Issue 5, p537-552, 16p, 4 Color Photographs, 1 Chart, 1 Graph