Author/Creator: Marchuk, D A - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Marchuk, D A

1. Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. Issue 9 (5th September 2003)

Authors:: Yip, A G; Dürr, A; Marchuk, D A; Ashley-Koch, A; Hentati, A; Rubinsztein, D C; Reid, E
Journal:: Journal of medical genetics
Issue:: Volume 40:Issue 9(2003)
Page Start:: e106
Record Type:: Journal Article
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2. A 90 kb DNA deletion associated with neurofibromatosis type 1. Issue 12 (December 1990)

Authors:: Upadhyaya, M; Cheryson, A; Broadhead, W; Fryer, A; Shaw, D J; Huson, S; Wallace, M R; Andersen, L B; Marchuk, D A; Viskochil, D
Journal:: Journal of medical genetics
Issue:: Volume 27:Issue 12(1990)
Page Start:: 738
Record Type:: Journal Article
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3. Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. Issue 12 (December 1994)

Authors:: McAllister, K A; Lennon, F; Bowles-Biesecker, B; McKinnon, W C; Helmbold, E A; Markel, D S; Jackson, C E; Guttmacher, A E; Pericak-Vance, M A; Marchuk, D A
Journal:: Journal of medical genetics
Issue:: Volume 31:Issue 12(1994)
Page Start:: 927
Record Type:: Journal Article
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4. SMAD4 mutations found in unselected HHT patients. Issue 10 (13th April 2006)

Authors:: Gallione, C J; Richards, J A; Letteboer, T G W; Rushlow, D; Prigoda, N L; Leedom, T P; Ganguly, A; Castells, A; Ploos van Amstel, J K; Westermann, C J J; Pyeritz, R E; Marchuk, D A
Journal:: Journal of medical genetics
Issue:: Volume 43:Issue 10(2006)
Page Start:: 793
Record Type:: Journal Article
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5. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?. Issue 3 (March 1996)

Authors:: Berg, J N; Guttmacher, A E; Marchuk, D A; Porteous, M E
Journal:: Journal of medical genetics
Issue:: Volume 33:Issue 3(1996)
Page Start:: 256
Record Type:: Journal Article
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6. Evidence for loss of heterozygosity of 5q in sporadic haemangiomas: are somatic mutations involved in haemangioma formation?. Issue 3 (1st March 2001)

Authors:: Berg, J N; Walter, J W; Thisanagayam, U; Evans, M; Blei, F; Waner, M; Diamond, A G; Marchuk, D A; Porteous, M E
Journal:: Journal of clinical pathology
Issue:: Volume 54:Issue 3(2001)
Page Start:: 249
Record Type:: Journal Article
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