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D Lindhout

Showing results (101-110 of 123) with videos related to

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Human Mutation|April 24, 1999
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.
Human Genetics|November 2, 2004
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patientsT G W Letteboer, R A Zewald, E J Kamping, et al.
Neurology|January 21, 2009
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutationM A van Es, F P Diekstra, J H Veldink, et al.
Cell|May 30, 1997
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasiaS Mundlos, F Otto, C Mundlos, et al.
European Journal of Pediatrics|April 17, 1999
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhoodS Verhoef, R van Diemen-Steenvoorde, W L Akkersdijk, et al.
American Journal of Human Genetics|May 20, 1999
High rate of mosaicism in tuberous sclerosis complexS Verhoef, L Bakker, A M Tempelaars, et al.
Human Genetics|September 13, 2005
Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsionD Pinto, G-J de Haan, D Carton, et al.
Epilepsia|May 14, 1998
Maternal use of antiepileptic drugs and the risk of major congenital malformations: a joint European prospective study of human teratogenesis associated with maternal epilepsyE B Samrén, C M van Duijn, S Koch, et al.
Neurology|March 13, 2002
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysisB P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, et al.
Human Molecular Genetics|February 5, 1999
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)J M Serratosa, P Gómez-Garre, M E Gallardo, et al.
Pageof 13

Showing results (101-110 of 123) with videos related to

Sort By:
Pageof 13
Human Mutation|April 24, 1999
Identification of a large insertion and two novel point mutations (3671del8 and S1221X) in tuberous sclerosis complex (TSC) patients. Mutations in brief no. 119. OnlineQ Wang, S Verhoef, A M Tempelaars, et al.
Human Genetics|November 2, 2004
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patientsT G W Letteboer, R A Zewald, E J Kamping, et al.
Neurology|January 21, 2009
A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutationM A van Es, F P Diekstra, J H Veldink, et al.
Cell|May 30, 1997
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasiaS Mundlos, F Otto, C Mundlos, et al.
European Journal of Pediatrics|April 17, 1999
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhoodS Verhoef, R van Diemen-Steenvoorde, W L Akkersdijk, et al.
American Journal of Human Genetics|May 20, 1999
High rate of mosaicism in tuberous sclerosis complexS Verhoef, L Bakker, A M Tempelaars, et al.
Human Genetics|September 13, 2005
Gene symbol: KCNQ2. Disease: Benign neonatal familial convulsionD Pinto, G-J de Haan, D Carton, et al.
Epilepsia|May 14, 1998
Maternal use of antiepileptic drugs and the risk of major congenital malformations: a joint European prospective study of human teratogenesis associated with maternal epilepsyE B Samrén, C M van Duijn, S Koch, et al.
Neurology|March 13, 2002
Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysisB P C van de Warrenburg, R J Sinke, C C Verschuuren-Bemelmans, et al.
Human Molecular Genetics|February 5, 1999
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)J M Serratosa, P Gómez-Garre, M E Gallardo, et al.
Pageof 13