Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jaqueline T. Hecht"'
Autor:
Julie Hoover-Fong, David Rodriguez-Buritica, S. Shahrukh Hashmi, Adekemi Yewande Alade, Mary Ellen Little, Jaqueline T. Hecht, Maria Elena Serna, Cory J. Smid, Chengxin Liu, Janet M. Legare, Michael B. Bober, Richard M. Pauli, Jeffrey W. Campbell, Peggy Modaff
Publikováno v:
Journal of Neurosurgery: Pediatrics. :1-7
OBJECTIVE The authors sought to determine the overall incidence of cervicomedullary decompression (CMD) in patients with achondroplasia and the characteristics associated with those surgeries across multiple institutions with experience caring for in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246a27bed6f2cdad6773d8c613643095
https://doi.org/10.3171/2020.12.peds20715
https://doi.org/10.3171/2020.12.peds20715
Autor:
Mary Ellen Little, Michael B. Bober, Clare V. Logan, Jaqueline T. Hecht, Angela L. Duker, Laura S. Farach, Andrew P. Jackson
Publikováno v:
American journal of medical genetics. Part A. 176(2)
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::beee417770b0822f92c8c1b780edff28
https://pubmed.ncbi.nlm.nih.gov/29265708
https://pubmed.ncbi.nlm.nih.gov/29265708