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Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.
Thorburn DR, Dahl HH. Thorburn DR, et al. Among authors: dahl hh. Am J Med Genet. 2001 Spring;106(1):102-14. doi: 10.1002/ajmg.1380. Am J Med Genet. 2001. PMID: 11579429 Review.
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes.
Cree LM, Samuels DC, de Sousa Lopes SC, Rajasimha HK, Wonnapinij P, Mann JR, Dahl HH, Chinnery PF. Cree LM, et al. Among authors: dahl hh. Nat Genet. 2008 Feb;40(2):249-54. doi: 10.1038/ng.2007.63. Epub 2008 Jan 27. Nat Genet. 2008. PMID: 18223651
A novel mtDNA deletion in an infant with Pearson syndrome.
Kapsa R, Thompson GN, Thorburn DR, Dahl HH, Marzuki S, Byrne E, Blok RB. Kapsa R, et al. Among authors: dahl hh. J Inherit Metab Dis. 1994;17(5):521-6. doi: 10.1007/BF00711584. J Inherit Metab Dis. 1994. PMID: 7837757
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Houseman MJ, Ellis LA, Pagnamenta A, Di WL, Rickard S, Osborn AH, Dahl HH, Taylor GR, Bitner-Glindzicz M, Reardon W, Mueller RF, Kelsell DP. Houseman MJ, et al. Among authors: dahl hh. J Med Genet. 2001 Jan;38(1):20-5. doi: 10.1136/jmg.38.1.20. J Med Genet. 2001. PMID: 11134236 Free PMC article.
Mitochondrial diseases: beyond the magic circle.
Dahl HH, Thorburn DR. Dahl HH, et al. Am J Med Genet. 2001 Spring;106(1):1-3. doi: 10.1002/ajmg.1427. Am J Med Genet. 2001. PMID: 11579419 No abstract available.
High frequency hearing loss correlated with mutations in the GJB2 gene.
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. Wilcox SA, et al. Among authors: dahl hh. Hum Genet. 2000 Apr;106(4):399-405. doi: 10.1007/s004390000273. Hum Genet. 2000. PMID: 10830906
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.
Lamandé SR, Bateman JF, Hutchison W, McKinlay Gardner RJ, Bower SP, Byrne E, Dahl HH. Lamandé SR, et al. Among authors: dahl hh. Hum Mol Genet. 1998 Jun;7(6):981-9. doi: 10.1093/hmg/7.6.981. Hum Mol Genet. 1998. PMID: 9580662
Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder.
Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, Thorburn DR. Kirby DM, et al. Among authors: dahl hh. Neurology. 1999 Apr 12;52(6):1255-64. doi: 10.1212/wnl.52.6.1255. Neurology. 1999. PMID: 10214753
Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.
Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: dahl hh. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864
Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.
Sheffield LJ, Osborn AH, Hutchison WM, Sillence DO, Forrest SM, White SJ, Dahl HH. Sheffield LJ, et al. Among authors: dahl hh. J Med Genet. 1998 Dec;35(12):1004-8. doi: 10.1136/jmg.35.12.1004. J Med Genet. 1998. PMID: 9863597 Free PMC article.
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