Author/Creator: Boltshauser, E - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Boltshauser, E

1. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. Issue 12 (18th December 2003)

Authors:: Jakkula, E; Lohiniva, J; Capone, A; Bonafe, L; Marti, M; Schuster, V; Giedion, A; Eich, G; Boltshauser, E; Ala-Kokko, L; Superti-Furga, A
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 12(2003)
Page Start:: 942
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

2. Acrodermatitis chronica atrophicans. Issue 1 (January 1988)

Authors:: Nadal, D; Gundelfinger, R; Flueler, U; Boltshauser, E
Journal:: Archives of disease in childhood
Issue:: Volume 63:Issue 1(1988)
Page Start:: 72
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

3. Area postrema: fetal maturation, tumours, vomiting centre, somatic growth and role in neuromyelitis optica. (September 2019)

Authors:: Sarnat, HB; Flores-Sarnat, L; Boltshauser, E
Journal:: Canadian journal of neurological sciences
Issue:: Volume 46(2019)Supplement 2
Page Start:: S63
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

4. Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness. Issue 6 (1st December 2002)

Authors:: McEntagart, M; Dunstan, M; Bell, C; Boltshauser, E; Donaghy, M; Harper, P S; Williams, N; Teare, M D; Rahman, N
Journal:: Journal of neurology, neurosurgery and psychiatry
Issue:: Volume 73:Issue 6(2002)
Page Start:: 762
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

5. Drug refractory epilepsy in brain damage: effect of dextromethorphan on EEG in four patients. Issue 3 (March 1994)

Authors:: Schmitt, B; Netzer, R; Fanconi, S; Baumann, P; Boltshauser, E
Journal:: Journal of neurology, neurosurgery and psychiatry
Issue:: Volume 57:Issue 3(1994)
Page Start:: 333
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

6. Hereditary distal muscular atrophy with vocal cord paralysis and sensorineural hearing loss: a dominant form of spinal muscular atrophy?. Issue 2 (February 1989)

Authors:: Boltshauser, E; Lang, W; Spillmann, T; Hof, E
Journal:: Journal of medical genetics
Issue:: Volume 26:Issue 2(1989)
Page Start:: 105
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

7. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Issue 4 (1st April 2004)

Authors:: Lagier-Tourenne, C; Boltshauser, E; Breivik, N; Gribaa, M; Bétard, C; Barbot, C; Koenig, M
Journal:: Journal of medical genetics
Issue:: Volume 41:Issue 4(2004)
Page Start:: 273
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

8. Impact of computerised axial tomography of the management of posterior fossa tumours in childhood. Issue 3 (March 1977)

Authors:: Boltshauser, E; Hamalatha, H; Grant, D N; Till, K
Journal:: Journal of neurology, neurosurgery and psychiatry
Issue:: Volume 40:Issue 3(1977)
Page Start:: 209
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

9. Letter: Hydrocephalus treated by compressive head wrapping. Issue 5 (May 1976)

Authors:: Boltshauser, E; Cavanagh, N
Journal:: Archives of disease in childhood
Issue:: Volume 51:Issue 5(1976)
Page Start:: 399
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗

10. Outcome in children with brain tumours diagnosed in the first year of life: long-term complications and quality of life. Issue 7 (18th July 2007)

Authors:: Gerber, N U; Zehnder, D; Zuzak, T J; Poretti, A; Boltshauser, E; Grotzer, M A
Journal:: Archives of disease in childhood
Issue:: Volume 93:Issue 7(2008)
Page Start:: 582
Record Type:: Journal Article
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗