Dahl N - Search Results

1

Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.

Fröjmark AS, Schuster J, Sobol M, Entesarian M, Kilander MBC, Gabrikova D, Nawaz S, Baig SM, Schulte G, Klar J, Dahl N. Fröjmark AS, et al. Among authors: dahl n. Am J Hum Genet. 2011 Jun 10;88(6):852-860. doi: 10.1016/j.ajhg.2011.05.013. Am J Hum Genet. 2011. PMID: 21665003 Free PMC article.

2

Infantile autism--fragile X: molecular findings support genetic heterogeneity.

Malmgren H, Gustavson KH, Wahlström J, Arpi-Henriksson I, Bensch J, Pettersson U, Dahl N. Malmgren H, et al. Among authors: dahl n. Am J Med Genet. 1992 Dec 1;44(6):830-3. doi: 10.1002/ajmg.1320440624. Am J Med Genet. 1992. PMID: 1481857

3

Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.

Dahl N, Lagerström M, Erikson A, Pettersson U. Dahl N, et al. Am J Hum Genet. 1990 Aug;47(2):275-8. Am J Hum Genet. 1990. PMID: 2378352 Free PMC article.

4

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

Dahl N, Goonewardena P, Malmgren H, Gustavson KH, Holmgren G, Seemanova E, Annerén G, Flood A, Pettersson U. Dahl N, et al. Am J Hum Genet. 1989 Aug;45(2):304-9. Am J Hum Genet. 1989. PMID: 2569270 Free PMC article.

5

DNA linkage analysis of X-linked retinoschisis.

Dahl N, Goonewardena P, Chotai J, Anvret M, Pettersson U. Dahl N, et al. Hum Genet. 1988 Mar;78(3):228-32. doi: 10.1007/BF00291666. Hum Genet. 1988. PMID: 2894345

6

Genetic homogeneity of autoimmune polyglandular disease type I.

Björses P, Aaltonen J, Vikman A, Perheentupa J, Ben-Zion G, Chiumello G, Dahl N, Heideman P, Hoorweg-Nijman JJ, Mathivon L, Mullis PE, Pohl M, Ritzen M, Romeo G, Shapiro MS, Smith CS, Solyom J, Zlotogora J, Peltonen L. Björses P, et al. Among authors: dahl n. Am J Hum Genet. 1996 Oct;59(4):879-86. Am J Hum Genet. 1996. PMID: 8808604 Free PMC article.

7

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.

Arnell H, Hjälmås K, Jägervall M, Läckgren G, Stenberg A, Bengtsson B, Wassén C, Emahazion T, Annerén G, Pettersson U, Sundvall M, Dahl N. Arnell H, et al. Among authors: dahl n. J Med Genet. 1997 May;34(5):360-5. doi: 10.1136/jmg.34.5.360. J Med Genet. 1997. PMID: 9152831 Free PMC article.

8

Missense mutations in the human glutathione synthetase gene result in severe metabolic acidosis, 5-oxoprolinuria, hemolytic anemia and neurological dysfunction.

Dahl N, Pigg M, Ristoff E, Gali R, Carlsson B, Mannervik B, Larsson A, Board P. Dahl N, et al. Hum Mol Genet. 1997 Jul;6(7):1147-52. doi: 10.1093/hmg/6.7.1147. Hum Mol Genet. 1997. PMID: 9215686

9

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22.

Arnell H, Nemeth A, Annerén G, Dahl N. Arnell H, et al. Among authors: dahl n. Hum Genet. 1997 Sep;100(3-4):378-81. doi: 10.1007/s004390050519. Hum Genet. 1997. PMID: 9272158

10

Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family.

Balciuniene J, Dahl N, Borg E, Samuelsson E, Koisti MJ, Pettersson U, Jazin EE. Balciuniene J, et al. Among authors: dahl n. Am J Hum Genet. 1998 Sep;63(3):786-93. doi: 10.1086/302012. Am J Hum Genet. 1998. PMID: 9718342 Free PMC article.

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