Results 11 to 20 of about 8,253,745 (359)
Brain imaging in Kufs disease type B. case reports [PDF]
, 2015 The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF.
COLONNESE, Claudio +4 more
core +2 more sources
ERRATUM: Partial retraction of “Dyskeratosis congenita” [Autops Case Rep 10(3) (2020) e2020203]
Autopsy and Case Reports, 2022 Due to a desktop publishing error, the partial retraction notice “Partial retraction of “Dyskeratosis congenita” [Autops Case Rep 10(3) (2020) e2020203]” (DOI https://doi.org/10.4322/acr.2021.341), published in Autops. Case Rep.
Autopsy and Case Reports
doaj
Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]
, 2011 We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M +3 more
core +2 more sources
A Case Report of Case Report Pursuit by Medical Student [PDF]
, 2019 Medical students often seek case reports as vehicles for academic writing opportunities, conference presentation avenues, and residency/fellowship application highlights.
Lau, Wayne Bond +2 more
core +1 more source
Communication and Language Profiles of Children Treated for Posterior Fossa Brain Tumors
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Cognitive and language deficits are frequently reported sequelae of posterior fossa brain tumors (PFBT). Typically, delayed onset impedes prompt assessment and early intervention. This has devastating implications for quality of life.
Zara Sved +4 more
wiley +1 more source
Skeletal Radiology, 1980 Peer Reviewed ; http://deepblue.lib.umich.edu/bitstream/2027.42/46810/1/256_2004_Article_BF00347097 ...
Heidelberger, Kathleen P. +4 more
openaire +3 more sources
Malignant Melanoma of Nose and Paranasal Sinuses: 2 Case Reports [PDF]
, 2010 Malignant melanoma is one of the rare and highly aggressive diseases of the sinonasal cavity. High index of suspicion is required for diagnosis as the patient usually presents with non specific signs and symptoms.
Bhagat, S +4 more
core +1 more source
Headache in a patient with Klinefelter's syndrome and hyperostosis frontalis interna. [PDF]
, 2007 Hyperostosis frontalis interna (HFI) has been reported in older women, but reports in men are rare. We present a novel case of migraine headache in a gentleman with Klinefelter's syndrome and HFI, along with a discussion of possible pathophysiologic ...
Liebeskind, David S +2 more
core +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background The HIT network was established in 2000 to create a population‐based structure aiming to improve survival rates and reduce late effects for children with central nervous system (CNS) tumors by conducting comprehensive clinical trials.
Stefan Rutkowski +59 more
wiley +1 more source