Miami Children's Hospital

Hospital


Location: Miami

ISNI: 0000000096826720

ROR: https://ror.org/048d1b238

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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

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Abstract

Journal

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