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Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A. Renella R, et al. Among authors: boltshauser e. Am J Med Genet A. 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. Am J Med Genet A. 2006. PMID: 16470600
Natural history of twin disruption sequence.
Zankl A, Brooks D, Boltshauser E, Largo R, Schinzel A. Zankl A, et al. Among authors: boltshauser e. Am J Med Genet A. 2004 Jun 1;127A(2):133-8. doi: 10.1002/ajmg.a.20680. Am J Med Genet A. 2004. PMID: 15108199
An 11-month-old boy with psychomotor regression and auto-aggressive behaviour.
Chrysochoou C, Rutishauser C, Rauber-Lüthy C, Neuhaus T, Boltshauser E, Superti-Furga A. Chrysochoou C, et al. Among authors: boltshauser e. Eur J Pediatr. 2003 Jul;162(7-8):559-561. doi: 10.1007/s00431-003-1239-2. Epub 2003 May 16. Eur J Pediatr. 2003. PMID: 12751003 No abstract available.
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Jakkula E, Lohiniva J, Capone A, Bonafe L, Marti M, Schuster V, Giedion A, Eich G, Boltshauser E, Ala-Kokko L, Superti-Furga A. Jakkula E, et al. Among authors: boltshauser e. J Med Genet. 2003 Dec;40(12):942-8. doi: 10.1136/jmg.40.12.942. J Med Genet. 2003. PMID: 14684695 Free PMC article. No abstract available.
The effect of the N-methyl-D-aspartate receptor antagonist dextromethorphan on perioperative brain injury in children undergoing cardiac surgery with cardiopulmonary bypass: results of a pilot study.
Schmitt B, Bauersfeld U, Fanconi S, Wohlrab G, Huisman TA, Bandtlow C, Baumann P, Superti-Furga A, Martin E, Arbenz U, Molinari L, Turina M, Boltshauser E, Schmid ER. Schmitt B, et al. Among authors: boltshauser e. Neuropediatrics. 1997 Aug;28(4):191-7. doi: 10.1055/s-2007-973699. Neuropediatrics. 1997. PMID: 9309708 Clinical Trial.
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A. Giedion A, et al. Among authors: boltshauser e. Eur J Pediatr. 1997 Mar;156(3):214-23. doi: 10.1007/s004310050587. Eur J Pediatr. 1997. PMID: 9083764
412 results