Showing results (111-120 of 136) with videos related to
Sort By:
Pageof 14
The Journal of Clinical Endocrinology and Metabolism|January 13, 2004
A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1)A-M Nyström, M-L Bondeson, N Skanke, et al.International Journal of Cancer|August 12, 1998
Cytogenetic findings in invasive breast carcinomas with prognostically favourable histology: a less complex karyotypic pattern?A Adeyinka, F Mertens, I Idvall, et al.Genes, Chromosomes & Cancer|August 26, 1998
Frequent rearrangements of chromosomes 1, 7, and 8 in primary liver cancerL A Parada, M Hallén, K G Tranberg, et al.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.Pageof 14