Author/Creator: Tommerup, N - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Tommerup, N

1. 5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. Issue 5 (October 1981)

Authors:: Tommerup, N; Poulsen, H; Brøndum-Nielsen, K
Journal:: Journal of medical genetics
Issue:: Volume 18:Issue 5(1981)
Page Start:: 374
Record Type:: Journal Article
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2. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. Issue 6 (1st June 2002)

Authors:: Borg, I; Squire, M; Menzel, C; Stout, K; Morgan, D; Willatt, L; O'Brien, P C M; Ferguson-Smith, M A; Ropers, H H; Tommerup, N; Kalscheuer, V M; Sargan, D R
Journal:: Journal of medical genetics
Issue:: Volume 39:Issue 6(2002)
Page Start:: 391
Record Type:: Journal Article
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3. A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders. Issue 4 (April 1993)

Authors:: Tommerup, N; Tümer, Z; Tønnesen, T; Horn, N
Journal:: Journal of medical genetics
Issue:: Volume 30:Issue 4(1993)
Page Start:: 314
Record Type:: Journal Article
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4. A familial X;autosome translocation associated with Becker type muscular dystrophy?. Issue 1 (January 1991)

Authors:: Tommerup, N
Journal:: Journal of medical genetics
Issue:: Volume 28:Issue 1(1991)
Page Start:: 65
Record Type:: Journal Article
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5. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Issue 3 (13th July 2005)

Authors:: Kjaer, K W; Eiberg, H; Hansen, L; van der Hagen, C B; Rosendahl, K; Tommerup, N; Mundlos, S
Journal:: Journal of medical genetics
Issue:: Volume 43:Issue 3(2006)
Page Start:: 225
Record Type:: Journal Article
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6. Breakpoints around the HOXD cluster result in various limb malformations. Issue 2 (24th June 2005)

Authors:: Dlugaszewska, B; Silahtaroglu, A; Menzel, C; Kübart, S; Cohen, M; Mundlos, S; Tümer, Z; Kjaer, K; Friedrich, U; Ropers, H-H; Tommerup, N; Neitzel, H; Kalscheuer, V M
Journal:: Journal of medical genetics
Issue:: Volume 43:Issue 2(2006)
Page Start:: 111
Record Type:: Journal Article
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7. Constitutional ring chromosomes and tumour suppressor genes. Issue 12 (December 1992)

Authors:: Tommerup, N; Lothe, R
Journal:: Journal of medical genetics
Issue:: Volume 29:Issue 12(1992)
Page Start:: 879
Record Type:: Journal Article
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8. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). Issue 4 (1st April 2005)

Authors:: Kjaer, K W; Hansen, L; Schwabe, G C; Marques-de-Faria, A P; Eiberg, H; Mundlos, S; Tommerup, N; Rosenberg, T
Journal:: Journal of medical genetics
Issue:: Volume 42:Issue 4(2005)
Page Start:: 292
Record Type:: Journal Article
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9. Genetic heterogeneity in Pakistani microcephaly families. (7th August 2012)

Authors:: Sajid Hussain, M; Marriam Bakhtiar, S; Farooq, M; Anjum, I; Janzen, E; Reza Toliat, M; Eiberg, H; Kjaer, KW; Tommerup, N; Noegel, AA; Nürnberg, P; Baig, SM; Hansen, L
Journal:: Clinical genetics
Issue:: Volume 83:Number 5(2013:May)
Page Start:: 446
Record Type:: Journal Article
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10. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. Issue 11 (19th August 2008)

Authors:: Erdogan, F; Larsen, L A; Zhang, L; Tümer, Z; Tommerup, N; Chen, W; Jacobsen, J R; Schubert, M; Jurkatis, J; Tzschach, A; Ropers, H-H; Ullmann, R
Journal:: Journal of medical genetics
Issue:: Volume 45:Issue 11(2008)
Page Start:: 704
Record Type:: Journal Article
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