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M H Breuning

Showing results (81-90 of 163) with videos related to

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American Journal of Human Genetics|November 5, 1997
Mutation detection in the repeated part of the PKD1 geneJ H Roelfsema, L Spruit, J J Saris, et al.
Neurology|June 17, 1999
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research GroupS A Oberstein, M D Ferrari, E Bakker, et al.
Nature Genetics|October 1, 1996
Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody diseaseA Odermatt, P E Taschner, V K Khanna, et al.
Progress in Clinical and Biological Research|January 1, 1989
Characterization of new probes for diagnosis of polycystic kidney disease (PKD1)M H Breuning, A Verwest, J Ijdo, et al.
American Journal of Medical Genetics|May 8, 2000
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3)F Petrij, J C Dorsman, H G Dauwerse, et al.
Cytogenetics and Cell Genetics|January 1, 1990
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridizationT Kievits, J G Dauwerse, J Wiegant, et al.
Neuromuscular Disorders : NMD|July 19, 2003
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contracturesA T J M Helderman-van den Enden, H B Ginjaar, A L J Kneppers, et al.
Kidney International|April 14, 1999
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skinF T van der Loop, L A Monnens, C H Schröder, et al.
Blood|November 15, 1993
A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4EoB A van der Reijden, J G Dauwerse, J W Wessels, et al.
Journal of Medical Genetics|February 12, 2002
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndromeJ G Dauwerse, K Bouman, A J van Essen, et al.
Pageof 17

Showing results (81-90 of 163) with videos related to

Sort By:
Pageof 17
American Journal of Human Genetics|November 5, 1997
Mutation detection in the repeated part of the PKD1 geneJ H Roelfsema, L Spruit, J J Saris, et al.
Neurology|June 17, 1999
Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research GroupS A Oberstein, M D Ferrari, E Bakker, et al.
Nature Genetics|October 1, 1996
Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody diseaseA Odermatt, P E Taschner, V K Khanna, et al.
Progress in Clinical and Biological Research|January 1, 1989
Characterization of new probes for diagnosis of polycystic kidney disease (PKD1)M H Breuning, A Verwest, J Ijdo, et al.
American Journal of Medical Genetics|May 8, 2000
Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3)F Petrij, J C Dorsman, H G Dauwerse, et al.
Cytogenetics and Cell Genetics|January 1, 1990
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridizationT Kievits, J G Dauwerse, J Wiegant, et al.
Neuromuscular Disorders : NMD|July 19, 2003
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contracturesA T J M Helderman-van den Enden, H B Ginjaar, A L J Kneppers, et al.
Kidney International|April 14, 1999
Identification of COL4A5 defects in Alport's syndrome by immunohistochemistry of skinF T van der Loop, L A Monnens, C H Schröder, et al.
Blood|November 15, 1993
A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4EoB A van der Reijden, J G Dauwerse, J W Wessels, et al.
Journal of Medical Genetics|February 12, 2002
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndromeJ G Dauwerse, K Bouman, A J van Essen, et al.
Pageof 17