Haan E - Search Results

1

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR, Laing NG. Davis MR, et al. Among authors: haan e. Neuromuscul Disord. 2003 Feb;13(2):151-7. doi: 10.1016/s0960-8966(02)00218-3. Neuromuscul Disord. 2003. PMID: 12565913

2

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Laing NG, et al. Among authors: haan ea. Am J Hum Genet. 1992 Mar;50(3):576-83. Am J Hum Genet. 1992. PMID: 1347195 Free PMC article.

3

Use of linkage data obtained in single families: prenatal diagnosis of a new X-linked mental retardation syndrome.

Mulley JC, Gedeon AK, Wilson S, Haan EA. Mulley JC, et al. Among authors: haan ea. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):415-9. doi: 10.1002/ajmg.1320430163. Am J Med Genet. 1992. PMID: 1605220

4

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.

Mulley JC, Gedeon AK, White SJ, Haan EA, Richards RI. Mulley JC, et al. Among authors: haan ea. J Med Genet. 1991 Jul;28(7):448-52. doi: 10.1136/jmg.28.7.448. J Med Genet. 1991. PMID: 1895314 Free PMC article.

5

Predictive diagnosis for polycystic kidney disease using DNA markers.

Mulley JC, Haan EA, Gedeon AK, Sutherland GR. Mulley JC, et al. Among authors: haan ea. Med J Aust. 1990 Mar 19;152(6):287-9. doi: 10.5694/j.1326-5377.1990.tb120947.x. Med J Aust. 1990. PMID: 2314330

6

Presymptomatic testing for myotonic dystrophy by means of the linked DNA marker APOC2.

Haan EA, Mulley JC, Gedeon AK, Sheffield LJ, Sutherland GR. Haan EA, et al. Med J Aust. 1988 Sep 19;149(6):326-9. doi: 10.5694/j.1326-5377.1988.tb120637.x. Med J Aust. 1988. PMID: 3047535

7

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2).

Sutherland GR, Gedeon AK, Haan EA, Woodroffe P, Mulley JC. Sutherland GR, et al. Among authors: haan ea. Am J Med Genet. 1988 May-Jun;30(1-2):493-508. doi: 10.1002/ajmg.1320300152. Am J Med Genet. 1988. PMID: 3177467

8

Familial occurrence of Brachmann-de Lange syndrome.

Bankier A, Haan E, Birrell R. Bankier A, et al. Among authors: haan e. Am J Med Genet. 1986 Sep;25(1):163-5. doi: 10.1002/ajmg.1320250119. Am J Med Genet. 1986. PMID: 3799716 No abstract available.

9

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.

Chenevix-Trench G, Wicking C, Berkman J, Sharpe H, Hockey A, Haan E, Oley C, Ravine D, Turner A, Goldgar D, et al. Chenevix-Trench G, et al. Among authors: haan e. Am J Hum Genet. 1993 Sep;53(3):760-7. Am J Hum Genet. 1993. PMID: 8352281 Free PMC article.

10

Direct molecular diagnosis of myotonic dystrophy.

Hecht BK, Donnelly A, Gedeon AK, Byard RW, Haan EA, Mulley JC. Hecht BK, et al. Among authors: haan ea. Clin Genet. 1993 Jun;43(6):276-85. doi: 10.1111/j.1399-0004.1993.tb03819.x. Clin Genet. 1993. PMID: 8370146

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