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Showing results (191-200 of 391) 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.
European Journal of Human Genetics : EJHG|November 25, 2010
Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani, Jaap van der Heijden, Yavuz Ariyurek, et al.
Brain Pathology (Zurich, Switzerland)|May 12, 2007
Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's diseaseMarion Maat-Schieman, Raymund Roos, Monique Losekoot, 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.
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.
European Journal of Human Genetics : EJHG|April 21, 2001
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the diseaseC Rosenberg, C H Wouters, K Szuhai, 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.
Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, 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.
Pageof 40

Showing results (191-200 of 391) with videos related to

Sort By:
Pageof 40
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.
European Journal of Human Genetics : EJHG|November 25, 2010
Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani, Jaap van der Heijden, Yavuz Ariyurek, et al.
Brain Pathology (Zurich, Switzerland)|May 12, 2007
Neuronal intranuclear and neuropil inclusions for pathological assessment of Huntington's diseaseMarion Maat-Schieman, Raymund Roos, Monique Losekoot, 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.
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.
European Journal of Human Genetics : EJHG|April 21, 2001
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the diseaseC Rosenberg, C H Wouters, K Szuhai, 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.
Human Mutation|November 22, 2012
Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten, Yu Sun, Rowida Almomani, 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.
Pageof 40