المؤلفون: Vanina Taliercio, Pavalan Selvam, Gulsen Akay, Stacey Cole, Josue Flores-Daboub, David Viskochil

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101063- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002097; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/35674f73d68c47119689e30ec36b2f94

المؤلفون: Robert Lewis, Makenzie Fulmer, Jian Zhao, Lucilla Pizzo, Ting Wen, John O'Shea, Thomas Nicholas, Steven Boyden, David Viskochil, Nicola Longo, Ashley Andrews, Erin Baldwin, Matt Velinder, Russell Butterfield, Karin Dent, Kourtney Santucci, Austin Larson, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101470- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006162; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/ceab867783d74befb1ecce6c03ae6be5

المؤلفون: Gulsen Akay, Vanina Taliercio, Janice Palumbos, David Viskochil

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100125- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001255; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/da46f1a2c29e4d06a7645530c4aa079f

المؤلفون: Robert Lewis, David Viskochil, Ashley Andrews, Karin Dent, Rong Mao, Lorenzo Botto, Pinar Bayrak-Toydemir

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100546- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423005460; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/68334793566e4fd19a8c5efb9ee3e85a

المؤلفون: John O'Shea, Jian Zhao, Pinar Bayrak-Toydemir, David Viskochil, Ashley Andrews, Lorenzo Botto, Rong Mao

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100571- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S294977442300571X; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/596172bbab2349bab2fe28f409244a47

المؤلفون: Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey L. Clardy, Ashley Andrews, Lorenzo Botto, Gabor Marth

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e62dd2ea5a434ba3a69d1064890091f2

المؤلفون: Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2

المؤلفون: Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges, Chase Miller, Anders Pitman, Will Richards, Aditya Ekawade, David Viskochil, John C. Carey, Laura Pace, Jim Bale, Stacey L. Clardy, Ashley Andrews, Lorenzo Botto, Gabor Marth

المصدر: Scientific Reports, Vol 12, Iss 1, Pp 1-1 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/83ce2aad8ce94366b4e12bbbfe6e3f77

المؤلفون: Mindell Seidlin, Robert Holzman, Pamela Knight, Bruce Korf, Vanessa Rangel Miller, David Viskochil, Annette Bakker, Children’s Tumor Foundation

المصدر: PLoS ONE, Vol 12, Iss 6, p e0178639 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5482445?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b6393883fb344a85b62c943594901c55

المؤلفون: Angela Peron, Felice D'Arco, Kimberly A. Aldinger, Constance Smith-Hicks, Christiane Zweier, Gyri A. Gradek, Kimberley Bradbury, Andrea Accogli, Erica F. Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange-Line Bruel (O)yvind L(o)vold Busk, Philippe M. Campeau, Valeria Capra, Colleen Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton-Smith, Michael J Bamshad, Dawn L. Earl, Laurence Faivre, Christophe Philippe, Patrick Ferrerira, Luitgard Graul-Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Jane Hurst, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen J. Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Marcinkute, Catherine Melver, Kimberly McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda S. Openshaw, Janice Cox Palumbos, Aditi Shah Parikh, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey-Gaut, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Bert B. A. de Vries, Francois Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

المساهمون: A. Peron, F. D'Arco, K.A. Aldinger, C. Smith-Hick, C. Zweier, G.A. Gradek, K. Bradbury, A. Accogli, E.F. Andersen, P. Yee Billie Au, R. Battini, D. Beleford, L.M. Bird, A. Bouman, A. Bruel (O)yvind L(o)vold Busk, P.M. Campeau, V. Capra, C. Carlston, J. Carmichael, A. Chassevent, J. Clayton-Smith, M. J Bamshad, D.L. Earl, L. Faivre, C. Philippe, P. Ferrerira, L. Graul-Neumann, M.J. Green, D. Haffner, P. Haldipur, S. Hanna, G. Houge, J. Hurst, C. Krau, B. Elisabeth Kristiansen, J. Lespinasse, K.J. Low, S. Ann Lynch, S. Maia, R. Mao, R. Marcinkute, C. Melver, K. Mcdonald, T. Montgomery, M. Morleo, C. Motter, A.S. Openshaw, J. Cox Palumbo, A. Shah Parikh, R. Person, M. Desai, J. Piard, R. Pfundt, M. Scala, M. Serey-Gaut, A. Slavotinek, M. Suri, C. Turner, T. Tvrdik, K. Wei, I.M. Wentzensen, M. Zollino, B.B.A. de Vrie, F. Guillemot, W.B. Dobyn, D. Viskochil, C. Dias

مصطلحات موضوعية: BCL11A, rare disease, intellectual disability, neurodevelopmental disorder, fetal hemoglobin, cerebellar abnormalitie, microcephaly, Settore MED/03 - Genetica Medica

Relation: numberofpages:32; http://hdl.handle.net/2434/884476; https://www.medrxiv.org/content/10.1101/2021.09.06.21262776v1

الاتاحة: http://hdl.handle.net/2434/884476
https://doi.org/10.1101/2021.09.06.21262776
https://www.medrxiv.org/content/10.1101/2021.09.06.21262776v1

المؤلفون: Isidro, Cortes-Ciriano, Christopher D, Steele, Katherine, Piculell, Alyaa, Al-Ibraheemi, Vanessa, Eulo, Marilyn M, Bui, Aikaterini, Chatzipli, Brendan C, Dickson, Dana C, Borcherding, Andrew, Feber, Alon, Galor, Jesse, Hart, Kevin B, Jones, Justin T, Jordan, Raymond H, Kim, Daniel, Lindsay, Colin, Miller, Yoshihiro, Nishida, Paula Z, Proszek, Jonathan, Serrano, R Taylor, Sundby, Jeffrey J, Szymanski, Nicole J, Ullrich, David, Viskochil, Xia, Wang, Matija, Snuderl, Peter J, Park, Adrienne M, Flanagan, Angela C, Hirbe, Nischalan, Pillay, David T, Miller

المصدر: Cancer Discovery. 13:654-671

مصطلحات موضوعية: Oncology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af47f0e457c5aa96b953dcac0b29aac9
https://doi.org/10.1158/2159-8290.cd-22-0786

المؤلفون: Heather E, Williams, Lila, Aiyar, Mary Beth, Dinulos, David, Flannery, Michelle L, McClure, Michele A, Lloyd-Puryear, Kunal, Sanghavi, Tracy L, Trotter, David, Viskochil

المصدر: Genetics in Medicine. 24:2211-2219

مصطلحات موضوعية: Genetics, Medical, Humans, Genomics, Genetic Testing, Delivery of Health Care, United States, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034bba2ce52d0fee7607e20789a88223
https://doi.org/10.1016/j.gim.2022.07.017

المؤلفون: Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, Clemens Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer-Sawatzki, Bruce R. Korf, Victor-Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent Riccardi, Elizabeth Schorry, Miriam J. Smith, Anat Stemmer-Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan M. Huson, Pierre Wolkenstein, D. Gareth Evans, Monique Anten, Arthur Aylsworth, Diana Baralle, Sebastien Barbarot, Fred Barker, Shay Ben-Shachar, Amanda Bergner, Didier Bessis, Ignacio Blanco, Catherine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, Pascal Joly, Justin T. Jordan, Matthias Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Le, Michael Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger Packer, Allyson Parry, Juha Peltonen, Dominique Pichard, Bruce Poppe, Nilton Rezende, Luiz Oswaldo Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke-Lange, Stavros Michael Stivaros, Amy Taylor, Jaan Toelen, James Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

المساهمون: Pediatrics

المصدر: Genetics in Medicine, 24(9), 1967-1977. Lippincott Williams & Wilkins

مصطلحات موضوعية: Neurofibromatosis 2, Consensus, Neurofibromatosis 1, Skin Neoplasms, Neurofibromatoses, NF2, Neurofibromatosis, SMARCB1, Schwannomatosis, lztr1, Humans, Genetics (clinical), Neurilemmoma

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af050a10db9d27e206369bb2b357dc2
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2c

المؤلفون: David T. Miller, Nischalan Pillay, Angela C. Hirbe, Adrienne M. Flanagan, Peter J. Park, Matija Snuderl, Xia Wang, David Viskochil, Nicole J. Ullrich, Jeffrey J. Szymanski, R. Taylor Sundby, Jonathan Serrano, Paula Z. Proszek, Yoshihiro Nishida, Colin Miller, Daniel Lindsay, Raymond H. Kim, Justin T. Jordan, Kevin B. Jones, Jesse Hart, Alon Galor, Andrew Feber, Dana C. Borcherding, Brendan C. Dickson, Aikaterini Chatzipli, Marilyn M. Bui, Vanessa Eulo, Alyaa Al-Ibraheemi, Katherine Piculell, Christopher D. Steele, Isidro Cortes-Ciriano

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::161b5a8bac5dc55c121b8f13371bedb4
https://doi.org/10.1158/2159-8290.22542121

المؤلفون: David T. Miller, Nischalan Pillay, Angela C. Hirbe, Adrienne M. Flanagan, Peter J. Park, Matija Snuderl, Xia Wang, David Viskochil, Nicole J. Ullrich, Jeffrey J. Szymanski, R. Taylor Sundby, Jonathan Serrano, Paula Z. Proszek, Yoshihiro Nishida, Colin Miller, Daniel Lindsay, Raymond H. Kim, Justin T. Jordan, Kevin B. Jones, Jesse Hart, Alon Galor, Andrew Feber, Dana C. Borcherding, Brendan C. Dickson, Aikaterini Chatzipli, Marilyn M. Bui, Vanessa Eulo, Alyaa Al-Ibraheemi, Katherine Piculell, Christopher D. Steele, Isidro Cortes-Ciriano

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15deb6bdcb75389ac6ff3546033511c4
https://doi.org/10.1158/2159-8290.22542118.v1

المؤلفون: David T. Miller, Nischalan Pillay, Angela C. Hirbe, Adrienne M. Flanagan, Peter J. Park, Matija Snuderl, Xia Wang, David Viskochil, Nicole J. Ullrich, Jeffrey J. Szymanski, R. Taylor Sundby, Jonathan Serrano, Paula Z. Proszek, Yoshihiro Nishida, Colin Miller, Daniel Lindsay, Raymond H. Kim, Justin T. Jordan, Kevin B. Jones, Jesse Hart, Alon Galor, Andrew Feber, Dana C. Borcherding, Brendan C. Dickson, Aikaterini Chatzipli, Marilyn M. Bui, Vanessa Eulo, Alyaa Al-Ibraheemi, Katherine Piculell, Christopher D. Steele, Isidro Cortes-Ciriano

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae70edd78830fc820d4ca5d1771d9b86
https://doi.org/10.1158/2159-8290.c.6549805.v1

المؤلفون: Joshua B. Rubin, David H. Gutmann, Joshua D. Schiffman, Jeffrey C. Allen, Uri Tabori, Michael J. Fisher, Karlyne M. Reilly, Jason T. Forys, Todd E. Druley, David Viskochil, David A. Stevenson, Douglas R. Stewart, Amanda Merkelson, Anne C. Albers, Debra Spoljaric, Sara Ganzhorn, Patricia C. Parkin, Robert C. McKinstry, Jingqin Luo, Tao Sun, Nicole M. Warrington

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1146c6d3e6309f8761bc9385a5813735
https://doi.org/10.1158/0008-5472.22406088

المؤلفون: Joshua B. Rubin, David H. Gutmann, Joshua D. Schiffman, Jeffrey C. Allen, Uri Tabori, Michael J. Fisher, Karlyne M. Reilly, Jason T. Forys, Todd E. Druley, David Viskochil, David A. Stevenson, Douglas R. Stewart, Amanda Merkelson, Anne C. Albers, Debra Spoljaric, Sara Ganzhorn, Patricia C. Parkin, Robert C. McKinstry, Jingqin Luo, Tao Sun, Nicole M. Warrington

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4f70360ba51f1646bc2507f33ad8ee
https://doi.org/10.1158/0008-5472.22406085

المؤلفون: Joshua B. Rubin, David H. Gutmann, Joshua D. Schiffman, Jeffrey C. Allen, Uri Tabori, Michael J. Fisher, Karlyne M. Reilly, Jason T. Forys, Todd E. Druley, David Viskochil, David A. Stevenson, Douglas R. Stewart, Amanda Merkelson, Anne C. Albers, Debra Spoljaric, Sara Ganzhorn, Patricia C. Parkin, Robert C. McKinstry, Jingqin Luo, Tao Sun, Nicole M. Warrington

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::386b672bd56ed0549bd4e6631abc9e90
https://doi.org/10.1158/0008-5472.22406091

المؤلفون: Michael Frost, Eduard Serra, David Viskochil, Bruce R. Korf, Michelle K. Mattson-Hoss, Glenn E. Croston, Herb Sarnoff

المصدر: Journal of Translational Genetics and Genomics. 6:403-28

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9288b92b7c7f29037b5b26940ab772a4
https://doi.org/10.20517/jtgg.2022.14