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Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|October 12, 2012
Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection?Lucia Abela, Elisabeth Jane Rushing, Carmen Ares, et al.
European Journal of Pediatrics|May 13, 2005
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2geneChristian Balmer, Diana Ballhausen, Nils U Bosshard, et al.
American Journal of Medical Genetics. Part A|September 12, 2020
Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATMSimone Schröder, Britta Wieland, Andreas Ohlenbusch, et al.
Pediatric Blood & Cancer|August 14, 2013
Apparent diffusion coefficient of pediatric cerebellar tumors: a biomarker of tumor grade?Andrea Poretti, Avner Meoded, Kenneth J Cohen, et al.
Cerebellum (London, England)|March 3, 2015
Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1Sandra P Toelle, Andrea Poretti, Peter Weber, et al.
BMC Medical Genetics|July 24, 2020
Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case reportIngrid Bader, Nina McTiernan, Christine Darbakk, et al.
Expert Review of Neurotherapeutics|January 25, 2024
Omaveloxolone for the treatment of Friedreich ataxia: clinical trial results and practical considerationsDavid R Lynch, Susan Perlman, Kim Schadt
American Journal of Human Genetics|November 20, 2015
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and AtaxiaWolfgang M Schmidt, S Lane Rutledge, Rebecca Schüle, et al.
Pediatric Radiology|February 1, 2015
Longitudinally extensive myelopathy in childrenDanielle Eckart Sorte, Andrea Poretti, Scott D Newsome, et al.
Cerebellum & Ataxias|January 16, 2016
Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementJessica L Klein, Monica E Lemmon, Frances J Northington, et al.
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