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Toelle, Sandra P.
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1

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1184-1205 , 2024
Link: https://doi.org/10.1016/..
 
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2

Laser interstitial thermal therapy in pediatric cerebellar ..:

Bicciato, Giulio ; Gennari, Antonio Giulio ; Oertel, Markus Florian...
Epileptic Disorders.  25 (2023)  6 - p. 880-885 , 2023
Link: https://doi.org/10.1002/..
 
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3

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker f..:

Hülsmeier, Andreas J. ; Toelle, Sandra P. ; Bellstedt, Peter...
Journal of Lipid Research.  64 (2023)  12 - p. 100464 , 2023
Link: https://doi.org/10.1016/..
 
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4

Treatment of NF1-Associated Optic Pathway/Hypothalamic Glio..:

Weiser, Annette ; Hengartner, Heinz ; Kottke, Raimund...
Journal of Pediatric Hematology/Oncology.  45 (2022)  4 - p. e543-e546 , 2022
Link: https://doi.org/10.1097/..
 
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5

Heterozygous truncating variants in SUFU cause congenital o..:

Schröder, Simone ; Li, Yun ; Yigit, Gökhan...
Genetics in Medicine.  23 (2021)  2 - p. 341-351 , 2021
Link: https://doi.org/10.1038/..
 
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6

Nosological delineation of congenital ocular motor apraxia ..:

Wente, Sarah ; Schröder, Simone ; Buckard, Johannes...
Orphanet Journal of Rare Diseases.  11 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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7

Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis T..:

Toelle, Sandra P. ; Poretti, Andrea ; Weber, Peter...
The Cerebellum.  14 (2015)  6 - p. 642-649 , 2015
Link: https://doi.org/10.1007/..
 
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8

Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-D..:

Bosemani, Thangamadhan ; Steinlin, Maja ; Toelle, Sandra P....
Child's Nervous System.  32 (2015)  5 - p. 865-871 , 2015
Link: https://doi.org/10.1007/..
 
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9

Sensory stimulus‐sensitive drop attacks and basal ganglia c..:

Toelle, Sandra P ; Wille, David ; Schmitt, Bernhard...
Epileptic Disorders.  16 (2014)  1 - p. 88-92 , 2014
Link: https://doi.org/10.1684/..
 
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10

Macrocerebellum: Significance and Pathogenic Considerations:

Poretti, Andrea ; Mall, Volker ; Smitka, Martin...
The Cerebellum.  11 (2012)  4 - p. 1026-1036 , 2012
Link: https://doi.org/10.1007/..
 
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11

Cognitive outcome in children with rhombencephalosynapsis:

Poretti, Andrea ; Alber, Fabienne Dietrich ; Bürki, Sarah..
European Journal of Paediatric Neurology.  13 (2009)  1 - p. 28-33 , 2009
Link: https://doi.org/10.1016/..
 
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12

Blepharophimosis and mental retardation (BMR) phenotypes ca..:

Bartholdi, Deborah ; Toelle, Sandra P. ; Steiner, Bernhard...
European Journal of Medical Genetics.  51 (2008)  2 - p. 113-123 , 2008
Link: https://doi.org/10.1016/..
 
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13

Severe neurological impairment in hereditary methaemoglobin..:

M�ssner, Ekkehard ; Zurbriggen, Karin ; Eber, Stefan..
European Journal of Pediatrics.  163 (2004)  4-5 - p. 207-209 , 2004
Link: https://doi.org/10.1007/..
 
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14

Trichothiodystrophy with severe cardiac and neurological in..:

Toelle, Sandra P. ; Valsangiacomo, Emanuela ; Boltshauser, Eugen
European Journal of Pediatrics.  160 (2001)  12 - p. 728-731 , 2001
Link: https://doi.org/10.1007/..
 
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15

Treatment of NF1-Associated Optic Pathway/Hypothalamic Glio..:

Weiser, Annette ; Hengartner, Heinz ; Kottke, Raimund...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115491/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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