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201.
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Deregulated expression of EZH2 in congenital brainstem disconnection. [electronic resource] by
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- Fluiter, K
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- Poretti, A
- Miller, D C
- Boltshauser, E
- Harding, B
- Santi, M
- Baas, F
Producer: 20180426
In:
Neuropathology and applied neurobiology vol. 43
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202.
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MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. [electronic resource] by
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- Decker, E
- Mayr, J A
- Lunzer, V
- Koch, J
- Boltshauser, E
- Sperl, W
- Pietsch, P
- Ertl-Wagner, B
- Bolz, H
- Bergmann, C
- Rittinger, O
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In:
European journal of medical genetics vol. 59
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203.
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Rhombencephalosynapsis: clinical findings and neuroimaging in 9 children. [electronic resource] by
- Toelle, S P
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- Bast, T
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- Barsi, P
- Schneider, J F L
- Capone Mori, A
- Boltshauser, E
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In:
Neuropediatrics vol. 33
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204.
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Cerebellar cleft: confirmation of the neuroimaging pattern. [electronic resource] by
- Poretti, A
- Huisman, T A G M
- Cowan, F M
- Del Giudice, E
- Jeannet, P Y
- Prayer, D
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- du Plessis, A J
- Limperopoulos, C
- Boltshauser, E
Producer: 20100615
In:
Neuropediatrics vol. 40
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205.
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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. [electronic resource] by
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- Bauersfeld, U
- Fanconi, S
- Wohlrab, G
- Huisman, T A
- Bandtlow, C
- Baumann, P
- Superti-Furga, A
- Martin, E
- Arbenz, U
- Molinari, L
- Turina, M
- Boltshauser, E
- Schmid, E R
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In:
Neuropediatrics vol. 28
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206.
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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. [electronic resource] by
- Wolf, N I
- Harting, I
- Boltshauser, E
- Wiegand, G
- Koch, M J
- Schmitt-Mechelke, T
- Martin, E
- Zschocke, J
- Uhlenberg, B
- Hoffmann, G F
- Weber, L
- Ebinger, F
- Rating, D
Producer: 20060120
In:
Neurology vol. 64
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207.
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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. [electronic resource] by
- Brancati, F
- Travaglini, L
- Zablocka, D
- Boltshauser, E
- Accorsi, P
- Montagna, G
- Silhavy, J L
- Barrano, G
- Bertini, E
- Emma, F
- Rigoli, L
- Dallapiccola, B
- Gleeson, J G
- Valente, E M
Producer: 20081111
In:
Clinical genetics vol. 74
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208.
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Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. [electronic resource] by
- Ekici, A B
- Hilfinger, D
- Jatzwauk, M
- Thiel, C T
- Wenzel, D
- Lorenz, I
- Boltshauser, E
- Goecke, T W
- Staatz, G
- Morris-Rosendahl, D J
- Sticht, H
- Hehr, U
- Reis, A
- Rauch, A
Publication details: Molecular syndromology Sep 2010
In:
Molecular syndromology vol. 1
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209.
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Neuropsychological problems after paediatric stroke: two year follow-up of Swiss children. [electronic resource] by
- Pavlovic, J
- Kaufmann, F
- Boltshauser, E
- Capone Mori, A
- Gubser Mercati, D
- Haenggeli, C-A
- Keller, E
- Lütschg, J
- Marcoz, J-P
- Ramelli, G-P
- Roulet Perez, E
- Schmitt-Mechelke, T
- Weissert, M
- Steinlin, M
Producer: 20060608
In:
Neuropediatrics vol. 37
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210.
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The first three years of the Swiss Neuropaediatric Stroke Registry (SNPSR): a population-based study of incidence, symptoms and risk factors. [electronic resource] by
- Steinlin, M
- Pfister, I
- Pavlovic, J
- Everts, R
- Boltshauser, E
- Capone Mori, A
- Gubser Mercati, D
- Hänggeli, C-A
- Keller, E
- Luetschg, J
- Marcoz, J
- Ramelli, G-P
- Roulet Perez, E
- Schmitt-Mechelke, T
- Weissert, M
Producer: 20050623
In:
Neuropediatrics vol. 36
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211.
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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. [electronic resource] by
- Goldberg, Y P
- MacFarlane, J
- MacDonald, M L
- Thompson, J
- Dube, M-P
- Mattice, M
- Fraser, R
- Young, C
- Hossain, S
- Pape, T
- Payne, B
- Radomski, C
- Donaldson, G
- Ives, E
- Cox, J
- Younghusband, H B
- Green, R
- Duff, A
- Boltshauser, E
- Grinspan, G A
- Dimon, J H
- Sibley, B G
- Andria, G
- Toscano, E
- Kerdraon, J
- Bowsher, D
- Pimstone, S N
- Samuels, M E
- Sherrington, R
- Hayden, M R
Producer: 20070621
In:
Clinical genetics vol. 71
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212.
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High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. [electronic resource] by
- Bruder, C E
- Hirvelä, C
- Tapia-Paez, I
- Fransson, I
- Segraves, R
- Hamilton, G
- Zhang, X X
- Evans, D G
- Wallace, A J
- Baser, M E
- Zucman-Rossi, J
- Hergersberg, M
- Boltshauser, E
- Papi, L
- Rouleau, G A
- Poptodorov, G
- Jordanova, A
- Rask-Andersen, H
- Kluwe, L
- Mautner, V
- Sainio, M
- Hung, G
- Mathiesen, T
- Möller, C
- Pulst, S M
- Harder, H
- Heiberg, A
- Honda, M
- Niimura, M
- Sahlén, S
- Blennow, E
- Albertson, D G
- Pinkel, D
- Dumanski, J P
Producer: 20010405
In:
Human molecular genetics vol. 10
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213.
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A clinical diagnostic algorithm for early onset cerebellar ataxia. [electronic resource] by
- Brandsma, R
- Verschuuren-Bemelmans, C C
- Amrom, D
- Barisic, N
- Baxter, P
- Bertini, E
- Blumkin, L
- Brankovic-Sreckovic, V
- Brouwer, O F
- Bürk, K
- Catsman-Berrevoets, C E
- Craiu, D
- de Coo, I F M
- Gburek, J
- Kennedy, C
- de Koning, T J
- Kremer, H P H
- Kumar, R
- Macaya, A
- Micalizzi, A
- Mirabelli-Badenier, M
- Nemeth, A
- Nuovo, S
- Poll-The, B
- Lerman-Sagie, T
- Steinlin, M
- Synofzik, M
- Tijssen, M A J
- Vasco, G
- Willemsen, M A A P
- Zanni, G
- Valente, E M
- Boltshauser, E
- Sival, D A
Producer: 20200113
In:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 23
Availability: No items available.
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