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L Bondeson

Showing results (61-70 of 77) with videos related to

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The European Journal of Surgery = Acta Chirurgica|June 26, 1998
Rapid increase in volume of the remnant after hemithyroidectomy does not correlate with serum concentration of thyroid stimulating hormoneJ Berglund, P Aspelin, A G Bondeson, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type IIS Bunge, M Rathmann, C Steglich, et al.
Cytogenetic and Genome Research|September 29, 2007
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardationA-C Thuresson, M-L Bondeson, C Edeby, et al.
Clinical Genetics|March 16, 2017
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathyM-L Bondeson, K Ericson, S Gudmundsson, et al.
Human Molecular Genetics|April 1, 1995
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndromeM L Bondeson, N Dahl, H Malmgren, et al.
Human Mutation|February 12, 2000
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. OnlineS L Karsten, E Voskoboeva, B M Carlberg, et al.
Human Molecular Genetics|April 1, 1997
Double-strand breaks may initiate the inversion mutation causing the Hunter syndromeK Lagerstedt, S L Karsten, B M Carlberg, et al.
Clinical Genetics|October 23, 2009
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1A M Nyström, S Ekvall, J Allanson, et al.
Genomics|July 15, 1997
Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndromeS L Karsten, K Lagerstedt, B M Carlberg, et al.
Genes, Chromosomes & Cancer|July 1, 1996
Chromosome aberrations in prophylactic mastectomies from women belonging to breast cancer familiesC Petersson, N Pandis, F Mertens, et al.
Pageof 8

Showing results (61-70 of 77) with videos related to

Sort By:
Pageof 8
The European Journal of Surgery = Acta Chirurgica|June 26, 1998
Rapid increase in volume of the remnant after hemithyroidectomy does not correlate with serum concentration of thyroid stimulating hormoneJ Berglund, P Aspelin, A G Bondeson, et al.
European Journal of Human Genetics : EJHG|November 5, 1998
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type IIS Bunge, M Rathmann, C Steglich, et al.
Cytogenetic and Genome Research|September 29, 2007
Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardationA-C Thuresson, M-L Bondeson, C Edeby, et al.
Clinical Genetics|March 16, 2017
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathyM-L Bondeson, K Ericson, S Gudmundsson, et al.
Human Molecular Genetics|April 1, 1995
Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndromeM L Bondeson, N Dahl, H Malmgren, et al.
Human Mutation|February 12, 2000
Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. OnlineS L Karsten, E Voskoboeva, B M Carlberg, et al.
Human Molecular Genetics|April 1, 1997
Double-strand breaks may initiate the inversion mutation causing the Hunter syndromeK Lagerstedt, S L Karsten, B M Carlberg, et al.
Clinical Genetics|October 23, 2009
Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1A M Nyström, S Ekvall, J Allanson, et al.
Genomics|July 15, 1997
Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndromeS L Karsten, K Lagerstedt, B M Carlberg, et al.
Genes, Chromosomes & Cancer|July 1, 1996
Chromosome aberrations in prophylactic mastectomies from women belonging to breast cancer familiesC Petersson, N Pandis, F Mertens, et al.
Pageof 8