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Author/Creator Sahoo, T

1. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. Issue 9 (3rd December 2008)

Authors:
Yan, J; Zhang, F; Brundage, E; Scheuerle, A; Lanpher, B; Erickson, R P; Powis, Z; Robinson, H B; Trapane, P L; Stachiw-Hietpas, D; Keppler-Noreuil, K M; Lalani, S R; Sahoo, T; Chinault, A C; Patel, A; Cheung, S W; Lupski, J R
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 9(2009)
Page Start:
626
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. Issue 6 (23rd September 2005)

Authors:
Sahoo, T; Peters, S U; Madduri, N S; Glaze, D G; German, J R; Bird, L M; Barbieri-Welge, R; Bichell, T J; Beaudet, A L; Bacino, C A
Journal:
Journal of medical genetics
Issue:
Volume 43:Issue 6(2006)
Page Start:
512
Record Type:
Journal Article
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4. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Issue 6 (15th March 2009)

Authors:
Ben-Shachar, S; Lanpher, B; German, J R; Qasaymeh, M; Potocki, L; Nagamani, S C Sreenath; Franco, L M; Malphrus, A; Bottenfield, G W; Spence, J E; Amato, S; Rousseau, J A; Moghaddam, B; Skinner, C; Skinner, S A; Bernes, S; Armstrong, N; Shinawi, M; Stankiewicz, P; Patel, A
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 6(2009)
Page Start:
382
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Issue 12 (6th July 2009)

Authors:
Sreenath Nagamani, S C; Zhang, F; Shchelochkov, O A; Bi, W; Ou, Z; Scaglia, F; Probst, F J; Shinawi, M; Eng, C; Hunter, J V; Sparagana, S; Lagoe, E; Fong, C-T; Pearson, M; Doco-Fenzy, M; Landais, E; Mozelle, M; Chinault, A C; Patel, A; Bacino, C A
Journal:
Journal of medical genetics
Issue:
Volume 46:Issue 12(2009)
Page Start:
825
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗