换一批TSC2pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
第一作者：
Ogorek, Barbara
作者：
Ogorek, Barbara [1]
;
Hamieh, Lana [2]
;
Hulshof, Hanna M. [3]
;
Lasseter, Kathryn [4]
;
Klonowska, Katarzyna [5]
;
Kuijf, Hugo [6]
;
Moavero, Romina [7]
;
Hertzberg, Christoph [8]
;
Weschke, Bernhard [9]
;
Riney, Kate [10]
;
Feucht, Martha [11]
;
Scholl, Theresa [12]
;
Krsek, Pavel [13]
;
Nabbout, Rima [14]
;
Jansen, Anna C. [15]
;
Benova, Barbora [16]
;
Aronica, Eleonora [17]
;
Lagae, Lieven ;
Curatolo, Paolo ;
Borkowska, Julita ;
Sadowski, Krzysztof ;
Domanska-Pakiela, Dorota ;
Janson, Stef ;
Kozlowski, Piotr ;
Urbanska, Malgorzata ;
Jaworski, Jacek ;
Jozwiak, Sergiusz ;
Jansen, Floor E. ;
Kotulska, Katarzyna ;
Kwiatkowski, David J.
作者单位：
Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA
[1]
Univ Med Ctr Utrecht, Dept Child Neurol, Brain Ctr, Utrecht, Netherlands
[2]
Univ Med Ctr Utrecht, Image Sci Inst, Utrecht, Netherlands
[3]
Tor Vergata Univ, Syst Med Dept, Child Neurol & Psychiat Unit, Rome, Italy
[4]
Vivantes Klinikum Neukolln, Diag & Behandlungszentrum Kinder, Berlin, Germany
[5]
Charite Univ Med Berlin, Dept Child Neurol, Berlin, Germany
[6]
Queensland Childrens Hosp, Neurosci Unit, South Brisbane, Qld, Australia
[7]
Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria
[8]
Charles Univ Prague, Motol Univ Hosp, Prague, Czech Republic
[9]
Univ Paris 05, Necker Enfants Malad Hosp, Reference Ctr Rare Epilepsies, Dept Pediat Neurol,Imagine
[10]
Vrije Univ Brussel, Pediat Neurol Unit, Neurogenet Res Grp, UZ Brussel, Brussels, Belgium
[11]
Univ Amsterdam, Dept Neuro Pathol, Amsterdam Neurosci, Amsterdam UMC, Amsterdam, Netherlands
[12]
Univ Hosp KU Leuven, Dept Dev, Leuven, Belgium
[13]
Childrens Mem Hlth Inst, Dept Neurol & Epileptol, Warsaw, Poland
[14]
GenomeScan, Leiden, Netherlands
[15]
Polish Acad Sci, Inst Bioorgan Chem, Dept Mol Genet, Poznan, Poland
[16]
Int Inst Mol & Cell Biol, Warsaw, Poland
[17]
发布时间
2022-09-10
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