Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3
Cardoso, Carlos, Leventer, Richard J., Ward, Heather L., Toyo-oka, Kazuhito, Chung, June, Gross, Alyssa, Martin, Christa L., Allanson, Judith, Pilz, Daniela T., Olney, Ann H., Mutchinick, Osvaldo M., Hirotsune, Shinji, Wynshaw-Boris, Anthony, Dobyns, William B., Ledbetter, David H.
Published in American journal of human genetics (01.04.2003)
Published in American journal of human genetics (01.04.2003)
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A specific mutation in TBL1XR1 causes Pierpont syndrome
Heinen, Charlotte A, Jongejan, Aldo, Watson, Peter J, Redeker, Bert, Boelen, Anita, Boudzovitch-Surovtseva, Olga, Forzano, Francesca, Hordijk, Roel, Kelley, Richard, Olney, Ann H, Pierpont, Mary Ella, Schaefer, G Bradley, Stewart, Fiona, van Trotsenburg, A S Paul, Fliers, Eric, Schwabe, John W R, Hennekam, Raoul C
Published in Journal of medical genetics (01.05.2016)
Published in Journal of medical genetics (01.05.2016)
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Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: Review of distal 7q deletions
Rush, Eric T., Stevens, Jadd M., Sanger, Warren G., Olney, Ann H.
Published in American journal of medical genetics. Part A (01.07.2013)
Published in American journal of medical genetics. Part A (01.07.2013)
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Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
Vajsar, Jiri, Zhang, Wenli, Dobyns, William B., Biggar, Doug, Holden, Kenton R., Hawkins, Cynthia, Ray, Peter, Olney, Ann H., Burson, Catherine M., Srivastava, Anand K., Schachter, Harry
Published in Neuromuscular disorders : NMD (01.02.2006)
Published in Neuromuscular disorders : NMD (01.02.2006)
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CLINICAL AND GENETIC ANALYSIS OF PALLISTER-HALL SYNDROME. •470
Biesecker, Leslie G, Kang, Seongman, Allen, Jeffrey C, Grebe, Theresa A, Clericuzio, Carol L, Olney, Ann H, Graham, John M
Published in Pediatric research (01.04.1996)
Published in Pediatric research (01.04.1996)
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