Zobrazeno 1 - 4
of 4
pro vyhledávání: '"M. J. Crumley"'
Autor:
Gail Coghlan, Edward Nylen, Klaus Wrogemann, Tracey Weiler, T M Fujiwara, Teresa Zelinski, M J Crumley, Cheryl R. Greenberg, Kenneth Morgan
Publikováno v:
The American Journal of Human Genetics. 63:140-147
Characterized by proximal muscle weakness and wasting, limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of clinical disorders. Previous reports have documented either autosomal dominant or autosomal recessive modes of inheritance, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2062dffff86751ccbfee027e3b564e0d
https://doi.org/10.1086/301925
https://doi.org/10.1086/301925
Autor:
Sandra L. Marles, A.M. Innes, Robert Brian Lowry, B. N. Chodirker, J. C. Loredo-Osti, Albert E. Chudley, Kenneth Morgan, Francois P. Bernier, T. M. Fujiwara, Cheryl R. Greenberg, M. J. Crumley, D.R. McLeod
Publikováno v:
American journal of medical genetics. Part A. (3)
The purpose of the study was to delineate the anomalies and the natural life history of persons with the Bowen-Conradi syndrome [Bowen and Conradi 1976: Birth Defects: Orig Artic Ser XII(6):101-108]. We ascertained 39 cases and personally examined al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4e7b0e04c12257fd1748bc5e0c2f679
https://pubmed.ncbi.nlm.nih.gov/12838567
https://pubmed.ncbi.nlm.nih.gov/12838567
Autor:
Harriet S. Tenenhouse, Thomas O. Carpenter, C. B. Langman, Danielle Frappier, Donald Anderson, M. Tieder, J. Tzenova, T. M. Fujiwara, M. J. Crumley, Kenneth Morgan, A. Rice, C. H. Kos, N. M. Roslin, Willem Proesmans, A. O. Jones
Publikováno v:
Journal of the American Society of Nephrology : JASN. 12(3)
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a renal phosphate (Pi) wasting disease first described in an extended Bedouin kindred, is characterized by hypophosphatemia, elevated serum 1,25-dihydroxyvitamin D levels, hypercalciuria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26e3f202138d250f139c2cc882da3a1f
https://pubmed.ncbi.nlm.nih.gov/11181798
https://pubmed.ncbi.nlm.nih.gov/11181798
Autor:
T, Weiler, C R, Greenberg, E, Nylen, K, Morgan, T M, Fujiwara, M J, Crumley, T, Zelinski, W, Halliday, B, Nickel, B, Triggs-Raine, K, Wrogemann
Publikováno v:
American journal of medical genetics. 72(3)
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of disorders affecting primarily the shoulder and pelvic girdles. Autosomal dominant and recessive forms have been identified; 8 have been mapped and 1 more has been postulated on the bas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a9301b212c8eae3904a5544e37b33922
https://pubmed.ncbi.nlm.nih.gov/9332671
https://pubmed.ncbi.nlm.nih.gov/9332671