المؤلفون: Garrelfs, MR, Takada, S, Kamsteeg, EJ, Pegge, S, Verheijen - Mancini, Grazia, Engelen, M, van de Warrenburg, B, Rennings, A, van Gaalen, J, Peters, I, Weemaes, C, Burg, M, Willemsen, M

المصدر: Garrelfs , MR , Takada , S , Kamsteeg , EJ , Pegge , S , Verheijen - Mancini , G , Engelen , M , van de Warrenburg , B , Rennings , A , van Gaalen , J , Peters , I , Weemaes , C , Burg , M & Willemsen , M 2020 , ' The Phenotypic Spectrum of PNKP-Associated Disease and the Absence of Immunodeficiency and Cancer Predisposition in a Dutch Cohort ' , Pediatric Neurology , vol. 113 , pp. 26-32 . https://doi.org/10.1016/j.pediatrneurol.2020.07.014

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/3d526d6f-aab8-4e2f-89c5-b8f8e057300e
https://doi.org/10.1016/j.pediatrneurol.2020.07.014
https://pure.eur.nl/ws/files/48405140/Repub_133686_O-A.pdf
http://hdl.handle.net/1765/133686

المؤلفون: Garrelfs MR, Wp, Vandertop, Hanneke Margo van Santen

المصدر: Europe PubMed Central

مصطلحات موضوعية: Arachnoid Cysts, Diagnosis, Differential, Gonadotropin-Releasing Hormone, Adolescent, Hypogonadism, Humans, Female, Amenorrhea, Megalencephaly, Hydrocephalus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d8238ff6dd71dfdebfbbc59494734c73
https://pubmed.ncbi.nlm.nih.gov/25004780