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M G Ausems

Showing results (11-20 of 26) with videos related to

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European Journal of Pediatrics|March 30, 2001
Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic studyJ C Giltay, M G Ausems, I van Seumeren, et al.
Neurology|March 17, 1999
A diagnostic protocol for adult-onset glycogen storage disease type IIM G Ausems, P Lochman, O P van Diggelen, et al.
Journal of Neurology|November 8, 2001
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotypeB P van de Warrenburg, C W Frenken, M G Ausems, et al.
Clinical Genetics|June 1, 1996
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type IIM G Ausems, M A Kroos, M Van der Kraan, et al.
American Journal of Medical Genetics|March 9, 1999
Different phenotypic expression in relatives with fabry disease caused by a W226X mutationI E Knol, M G Ausems, D Lindhout, et al.
Journal of Medical Genetics|February 7, 2001
De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancerR B van der Luijt, P H van Zon, R P Jansen, et al.
Journal of Medical Genetics|August 10, 2001
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutationsM G Ausems, K ten Berg, L A Sandkuijl, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counsellingM G Ausems, J Verbiest, M P Hermans, et al.
Annals of Neurology|September 1, 1995
Genotype-phenotype correlation in adult-onset acid maltase deficiencyJ H Wokke, M G Ausems, M J van den Boogaard, et al.
Journal of Medical Genetics|October 1, 1995
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patientsM A Kroos, M Van der Kraan, O P Van Diggelen, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
European Journal of Pediatrics|March 30, 2001
Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic studyJ C Giltay, M G Ausems, I van Seumeren, et al.
Neurology|March 17, 1999
A diagnostic protocol for adult-onset glycogen storage disease type IIM G Ausems, P Lochman, O P van Diggelen, et al.
Journal of Neurology|November 8, 2001
Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotypeB P van de Warrenburg, C W Frenken, M G Ausems, et al.
Clinical Genetics|June 1, 1996
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type IIM G Ausems, M A Kroos, M Van der Kraan, et al.
American Journal of Medical Genetics|March 9, 1999
Different phenotypic expression in relatives with fabry disease caused by a W226X mutationI E Knol, M G Ausems, D Lindhout, et al.
Journal of Medical Genetics|February 7, 2001
De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancerR B van der Luijt, P H van Zon, R P Jansen, et al.
Journal of Medical Genetics|August 10, 2001
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutationsM G Ausems, K ten Berg, L A Sandkuijl, et al.
European Journal of Human Genetics : EJHG|September 14, 1999
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counsellingM G Ausems, J Verbiest, M P Hermans, et al.
Annals of Neurology|September 1, 1995
Genotype-phenotype correlation in adult-onset acid maltase deficiencyJ H Wokke, M G Ausems, M J van den Boogaard, et al.
Journal of Medical Genetics|October 1, 1995
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patientsM A Kroos, M Van der Kraan, O P Van Diggelen, et al.
Pageof 3