Zobrazeno 1 - 5
of 5
pro vyhledávání: '"L. M. Bird"'
Autor:
M J, Basehore, R, Michaelson-Cohen, E, Levy-Lahad, C, Sismani, L M, Bird, M J, Friez, T, Walsh, F, Abidi, L, Holloway, C, Skinner, S, McGee, A, Alexandrou, M, Syrrou, P C, Patsalis, G, Raymond, T, Wang, C E, Schwartz, M-C, King, R E, Stevenson
Publikováno v:
Clinical genetics. 87(5)
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inacti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::306c42d4775dd1388389c2d95a48c389
https://pubmed.ncbi.nlm.nih.gov/24805811
https://pubmed.ncbi.nlm.nih.gov/24805811
Autor:
L M, Bird, J T, Mascarello
Publikováno v:
American journal of medical genetics. 100(1)
A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d5e66e8099f853986d4ab1e029e36873
https://pubmed.ncbi.nlm.nih.gov/11337743
https://pubmed.ncbi.nlm.nih.gov/11337743
Publikováno v:
Pediatrics. 97(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4bc3d4e8cdcf2d20288488a796e44a54
https://pubmed.ncbi.nlm.nih.gov/8628620
https://pubmed.ncbi.nlm.nih.gov/8628620
Akademický článek
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Autor:
Sahoo, T., S. U. Peters, N. S. Madduri, D. G. Glaze, J. R. German, L. M. Bird, R. Barbieri-Welge, Bichell, T. J., Beaudet, A. I., Bacino, C. A.
Publikováno v:
Journal of Medical Genetics; Jun2006, Vol. 43 Issue 6, p512-516, 5p, 1 Diagram, 2 Charts