Boltshauser E - Search Results

1

Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.

Poretti A, Bartholdi D, Gobara S, Alber FD, Boltshauser E. Poretti A, et al. Among authors: boltshauser e. Eur J Med Genet. 2008 May-Jun;51(3):197-208. doi: 10.1016/j.ejmg.2008.01.004. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342593

2

MRI in Cockayne syndrome type I.

Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. Boltshauser E, et al. Neuroradiology. 1989;31(3):276-7. doi: 10.1007/BF00344359. Neuroradiology. 1989. PMID: 2779780

3

A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.

Berthet F, Caduff R, Schaad UB, Roten H, Tuchschmid P, Boltshauser E, Seger RA. Berthet F, et al. Among authors: boltshauser e. Eur J Pediatr. 1994 May;153(5):333-8. doi: 10.1007/BF01956413. Eur J Pediatr. 1994. PMID: 8033921 Review.

4

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".

Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A. Superti-Furga A, et al. Among authors: boltshauser e. Am J Med Genet. 1998 Jun 30;78(2):150-4. doi: 10.1002/(sici)1096-8628(19980630)78:2<150::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1998. PMID: 9674906

5

Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children.

Toelle SP, Yalcinkaya C, Kocer N, Deonna T, Overweg-Plandsoen WC, Bast T, Kalmanchey R, Barsi P, Schneider JF, Capone Mori A, Boltshauser E. Toelle SP, et al. Among authors: boltshauser e. Neuropediatrics. 2002 Aug;33(4):209-14. doi: 10.1055/s-2002-34498. Neuropediatrics. 2002. PMID: 12368992 Review.

6

Homozygosity mapping of a third Joubert syndrome locus to 6q23.

Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. Lagier-Tourenne C, et al. Among authors: boltshauser e. J Med Genet. 2004 Apr;41(4):273-7. doi: 10.1136/jmg.2003.014787. J Med Genet. 2004. PMID: 15060101 Free PMC article.

7

Outcome of craniopharyngioma in children: long-term complications and quality of life.

Poretti A, Grotzer MA, Ribi K, Schönle E, Boltshauser E. Poretti A, et al. Among authors: boltshauser e. Dev Med Child Neurol. 2004 Apr;46(4):220-9. doi: 10.1017/s0012162204000374. Dev Med Child Neurol. 2004. PMID: 15077699 Free article.

8

Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions.

Boltshauser E. Boltshauser E. Am J Med Genet A. 2004 May 1;126A(4):376-85. doi: 10.1002/ajmg.a.20662. Am J Med Genet A. 2004. PMID: 15098235 Review.

9

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

10

Outcome of medulloblastoma in children: long-term complications and quality of life.

Ribi K, Relly C, Landolt MA, Alber FD, Boltshauser E, Grotzer MA. Ribi K, et al. Among authors: boltshauser e. Neuropediatrics. 2005 Dec;36(6):357-65. doi: 10.1055/s-2005-872880. Neuropediatrics. 2005. PMID: 16429375

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