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American Journal of Medical Genetics|May 5, 2001
De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISHJ F Sanchez-Garcia, C E de Die-Smulders, J W Weber, et al.
Neuromuscular Disorders : NMD|September 1, 1994
The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28E A Janssen, G W Hensels, B A van Oost, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 12, 2012
Implementation of a mobile 0.15-T intraoperative MR system in pediatric neuro-oncological surgery: feasibility and correlation with early postoperative high-field strength MRIP L Kubben, H van Santbrink, M ter Laak-Poort, et al.
Pediatric Neurosurgery|August 20, 2009
Intraspinal dermoid and epidermoid tumors: report of 18 cases and reappraisal of the literatureJ van Aalst, F Hoekstra, E A M Beuls, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|July 12, 2008
The spinal dermal-sinus-like stalkJ van Aalst, E A M Beuls, E M J Cornips, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 1, 1997
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1G J Jöbsis, J W Weber, P G Barth, et al.
European Journal of Medical Genetics|December 11, 2012
Adducted thumbs: a clinical clue to genetic diagnosisJ M A Verhagen, C T R M Schrander-Stumpel, M M J Blezer, et al.
European Journal of Medical Genetics|August 16, 2011
Congenital hydrocephalus in clinical practice: a genetic diagnostic approachJ M A Verhagen, C T R M Schrander-Stumpel, I P C Krapels, et al.
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