Zobrazeno 1 - 10
of 41
pro vyhledávání: '"M. Claasen"'
Autor:
Erika Banuelos, Keri Ramsey, Newell Belnap, Malavika Krishnan, Chris Balak, Szabolcs Szelinger, Ashley L. Siniard, Megan Russell, Ryan Richholt, Matt De Both, Ignazio Piras, Marcus Naymik, Ana M. Claasen, Sampathkumar Rangasamy, Matthew J. Huentelman, David W. Craig, Philippe M. Campeau, Vinodh Narayanan, Isabelle Schrauwen
Publikováno v:
F1000Research, Vol 6 (2017)
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describ
Externí odkaz:
https://doaj.org/article/3c3a49b6d93e4c97a0f99e2dd4136961
Autor:
J. Dodson, Ignazio S. Piras, D. W. Craig, Newell Belnap, G. Mills, Ana M. Claasen, Marcus Naymik, Lorida Llaci, Vinodh Narayanan, B. Gerald, Meredith Sanchez-Castillo, P. Venugopal, Chris Balak, Szabolcs Szelinger, Ryan Richholt, Sampath Rangasamy, Raj Gupta, Isabelle Schrauwen, Ashley L. Siniard, M. Brzezinski, Keri Ramsey, Wayne M. Jepsen, M. D. De Both, R. Pillai, E. S. Frankel, M. J. Huentelman, M. Sharifi
Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause classical forms of Rett syndrome (RTT) in girls. Patients with features of classical Rett syndrome, but do not fulfill all the diagnostic criteria (e.g. absence of a M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07a1c3d78777e2f8e300218f6b5c913b
Autor:
Carmel G. McCullough, Szabolcs Szelinger, Newell Belnap, Keri Ramsey, Isabelle Schrauwen, Ana M. Claasen, Leah W. Burke, Ashley L. Siniard, Matthew J. Huentelman, Vinodh Narayanan, David W. Craig
Publikováno v:
Human Mutation. 41
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3910784c5aa14891c550850910424a62
https://doi.org/10.1002/humu.23982
https://doi.org/10.1002/humu.23982
Autor:
L. Rajendran, F. Murillo Perez, T. Ivanics, M. Claasen, B. Hansen, D. Wallace, P. Yoon, G. Sapisochin
Publikováno v:
HPB. 24:S571
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3414daf711e37622c6a3c7dc8a69cd62
https://doi.org/10.1016/j.hpb.2022.05.1240
https://doi.org/10.1016/j.hpb.2022.05.1240
Publikováno v:
HPB. 24:S456
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a47afe2342580ff388f04c31618c7e6c
https://doi.org/10.1016/j.hpb.2022.05.982
https://doi.org/10.1016/j.hpb.2022.05.982
Akademický článek
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Autor:
M. Claasen, Lily Park, H. Msallak, V. Li, G. Sapisochin, M. Fabbro, Guillaume Martel, R. Faisal, S. Faisal, Pablo E. Serrano, Julie Hallet, Victoria Zuk, A. Workneh, B. Zhang, J. Daza
Publikováno v:
HPB. 23:S584-S585
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::009152a68b42064174e726e0f59f4e50
https://doi.org/10.1016/j.hpb.2021.06.251
https://doi.org/10.1016/j.hpb.2021.06.251
Autor:
W.J. Choi, F. Murillo, A. Gravely, M. Claasen, T. Ivanic, L. Abraham, P. Abreu, R. Visser, B. Hansen, G. Sapisochin
Publikováno v:
HPB. 23:S470-S471
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be4e8a6acdf46f91cfae384d52bbc608
https://doi.org/10.1016/j.hpb.2021.06.046
https://doi.org/10.1016/j.hpb.2021.06.046
Publikováno v:
South African Journal of Radiology, Vol 10, Iss 3 (2006)
Externí odkaz:
https://doaj.org/article/becb662c94424724b61a1e649023ac7a
Autor:
Naomi Meeks, Stefan Kindler, Anya Revah-Politi, Alexander P.A. Stegmann, Vinodh Narayanan, Dominique Bonneau, Claudia Schob, Jill A. Rosenfeld, Jennifer E. Posey, Tim M. Strom, LaDonna Immken, Tjitske Kleefstra, Jolanda H. Schieving, Katherine L. Helbig, Estelle Colin, Magalie Barth, Tamar Harel, Matthew J. Huentelman, James R. Lupski, Benjamin Cogné, Han G. Brunner, Yaping Yang, Sébastien Küry, Jenny Morton, Erica H. Gerkes, Keri Ramsey, Marine Tessarech, Zeynep Coban-Akdemir, Shimon Edvardson, Hans-Jürgen Kreienkamp, Nelly Oundjian, Davor Lessel, Christian Kubisch, Thomas Besnard, Jonas Denecke, Orly Elpeleg, Ana M. Claasen, Kelsey Zegar, Mohammad K. Eldomery, Sandra Mercier, Margot R.F. Reijnders, Stéphane Bézieau
Publikováno v:
American Journal of Human Genetics, 101(5), 716-724. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102, pp.196
American Journal of Human Genetics, 101(5), 716-724. CELL PRESS
American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)
American Journal of Human Genetics, 101, 716-724
Contains fulltext : 182457.pdf (Publisher’s version ) (Open Access) DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d21fafe9513ea25b968da850b4e79f7
https://doi.org/10.1016/j.ajhg.2017.09.014
https://doi.org/10.1016/j.ajhg.2017.09.014