Výsledky vyhledávání - "W. J. Mellman"

Deletion mapping: Further evidence for the location of acid phosphatase (ACP1) within 2p23

Autor: B. S. Emanuel, E. H. Zackai, D. C. Van Dyke, D. M. Swallow, F. H. Allen, W. J. Mellman, Uta Francke

Publikováno v: American Journal of Medical Genetics. 4:167-172

The human red cell acid phosphatase (ACP1) locus was assigned to region 2p23 leads to 2pter by Ferguson-Smith et al [3], more specifically to 2p23 by Hamerton et al [5]. We describe two unrelated patients with deletion of chromosome 2, with similar b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4143bc14269c40066f4f9a32de69b795
https://doi.org/10.1002/ajmg.1320040209

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Familial partial trisomy of the long arm of chromosome 10 (q24-26)

Autor: H, Moreno-Fuenmayor, E H, Zackai, W J, Mellman, M, Aronson

Publikováno v: Pediatrics. 56(5)

Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, +t (17p; 10q) are described. From an analysis of the phenotypes of these patients and others reported with 10q trisomy, we pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::37638b4b2acc65edc90d7804fbf26d2f
https://pubmed.ncbi.nlm.nih.gov/1196732

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