Search results - ORA - Oxford University Research Archive

1 - 16 of 16

1

Journal article

Sex bias in autism spectrum disorder in neurofibromatosis type 1

Garg, S, Heuvelman, H, Huson, S, et al.
2016-07-26

2

Journal article

A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map.

Markie, D, Huson, S, Maher, E, et al.
1996-08-01

3

Journal article

von Hippel-Lindau disease: renal tumors less than 3 cm. can metastasize.

Turner, K, Huson, S, Moore, N, et al.
2001-04-01

4

Journal article

Childhood vulval lichen sclerosus in a patient with ectodermal dysplasia and uncombable hair.

Powell, J, Wojnarowska, F, Dawber, R, et al.
1998-01-01

5

Journal article

A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.

Dunne, E, Hyman, N, Huson, S, et al.
1999-05-01

6

Journal article

Incorrect diagnosis of myotonic dystrophy and its potential consequences revealed by subsequent direct genetic analysis.

Barnes, P, Hilton-Jones, D, Norbury, G, et al.
1994-05-01

7

Journal article

Molecular studies of the fragile X syndrome.

Knight, S, Hirst, M, Roche, A, et al.
1992-01-01

8

Journal article

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.

Németh, A, Bochukova, E, Dunne, E, et al.
2000-11-01

9

Journal article

Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother.

Barnes, P, Kanabar, D, Brueton, L, et al.
1995-01-01

10

Journal article

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.

Douglas, J, Cilliers, D, Coleman, K, et al.
2007-08-01

11

Journal article

Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements.

Horsley, S, Knight, S, Nixon, J, et al.
1998-09-01

12

Conference item

Cervical spine neurofibromas in NF1 microdeletion patients

John, S, Castle, B, Upadhyaya, M, et al.
2006-09-01

13

Journal article

Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis.

Polizzi, A, Huson, S, Vincent, A
2000-11-01

14

Conference item

Genetic diagnostic services for familial endocrine cancers and hypercalcaemic disorders

Cranston, T, Turner, J, Seller, A, et al.
2002-09-01

15

Journal article

Genes for autosomal recessive cerebellar ataxia: order from chaos?

Nemeth, A, Dunne, E, Bomont, P, et al.
2001-09-01

16

Journal article

Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.

Brueton, L, Huson, S, Cox, P, et al.
2000-05-01

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