Miami Children's Hospital
Hospital
Location:
Miami,
United States (USA) (US)
ISNI: 0000000096826720
ROR: https://ror.org/048d1b238
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Beyond founder and truncting variants in TECPR2-associated disorder (2022)
Neuser S, Brechmann B, Heimer G, Brosse I, Schubert S, O'Grady L, Zech M, et al.
Conference contribution
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability (2021)
Neuser S, Brechmann B, Heimer G, Broesse I, Schubert S, O'Grady L, Zech M, et al.
Journal article
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020)
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al.
Journal article
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY): an epileptogenic neoplasm with oligodendroglioma-like components, aberrant CD34 expression, and genetic alterations involving the MAP kinase pathway (2017)
Huse JT, Snuderl M, Jones DTW, Brathwaite CD, Altman N, Lavi E, Saffery R, et al.
Journal article
Diagnostic methods and treatment options for focal cortical dysplasia (2015)
Guerrini R, Duchowny M, Jayakar P, Krsek P, Kahane P, Tassi L, Melani F, et al.
Journal article