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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2021
Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M.; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P.; Callewaert, Bert L.; Cereda, Anna; Cousin, Margot A.; Jimenez, Juan C. Del Rey; Demmer, Laurie; Dsouza, Nikita R.; Fleischer, Nicole; Gavrilova, Ralitza H.; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R.; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W.; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A.; McEntagart, Meriel; Meeks, Naomi J. L.; Mittag, Dana; Moore, Harrison; Olsen, Anne K.; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D. M.; Person, Richard E.; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J. Guillen; Bradley Schaefer, G.; Schnur, Rhonda E.; Scott, Tiana M.; Scott, Daryl A.; Serbinski, Carolyn R.; Shashi, Vandana; Siu, Victoria M.; Stadheim, Barbro Fossoy; Sullivan, Jennifer A.; Svantnerova, Jana; Velsher, Lea; Wargowski, David S.; Wentzensen, Ingrid M.; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T.; Meitinger, Thomas; Distelmaier, Felix und Wagner, Matias
(2021):
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
In: Genetics in Medicine, Bd. 23, Nr. 2: S. 384-395
[PDF, 5MB]
2020
Kloeckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; Boogaard, Marie-Jose van den; Crabben, Saskia N. van der; Gassen, Koen L. I. van; Jaarsveld, Richard H. van; Ziffle, Jessica van; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R. und Platzer, Konrad
(2020):
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
In: Genetics in Medicine, Bd. 23, Nr. 4: S. 653-660
2018
Shashi, Vandana; Magiera, Maria M.; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Neto, Osorio Lopes Abath; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A.; Marom, Ronit; Arold, Stefan T.; Guzman-Vega, Francisco J.; Pena, Loren D. M.; Smith, Edward C.; Steinlin, Maja; Babiker, Mohamed O. E.; Mohassel, Payam; Foley, A. Reghan; Donkervoort, Sandra; Kaur, Rupleen; Ghosh, Partha S.; Stanley, Valentina; Musaev, Damir; Nava, Caroline; Mignot, Cyril; Keren, Boris; Scala, Marcello; Tassano, Elisa; Picco, Paolo; Doneda, Paola; Fiorillo, Chiara; Issa, Mahmoud Y.; Alassiri, Ali; Alahmad, Ahmed; Gerard, Amanda; Liu, Pengfei; Yang, Yaping; Ertl-Wagner, Birgit; Kranz, Peter G.; Wentzensen, Ingrid M.; Stucka, Rolf; Stong, Nicholas; Allen, Andrew S.; Goldstein, David B.; Schoser, Benedikt; Rosler, Kai M.; Alfadhel, Majid; Capra, Valeria; Chrast, Roman; Strom, Tim M.; Kamsteeg, Erik-Jan; Bonnemann, Carsten G.; Gleeson, Joseph G.; Martini, Rudolf; Janke, Carsten und Senderek, Jan
(2018):
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
In: EMBO Journal, Bd. 37, Nr. 23, e100540