Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Joanna McCauley"'
Autor:
Alasdair G. W. Hunter, Simon T. Holden, Jacques L. Michaud, Fiona Vaz, Jeremy D. Robertson, Stephen Abbs, Ruth McGowan, Joanna McCauley, Sulekha Rajagopalan, Kate Gibson, Navta Masand
Publikováno v:
American journal of medical genetics. Part A. (10)
X-linked VACTERL-hydrocephalus syndrome (X-linked VACTERL-H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e74a3b444b2d79fa6498a2cc2c1524
https://pubmed.ncbi.nlm.nih.gov/21910217
https://pubmed.ncbi.nlm.nih.gov/21910217
Autor:
Sanjeev Rajakulendran, Thierry Kuntzer, Murielle Dunand, Shu C. Yau, Emma J. Ashton, Helen Storey, Joanna McCauley, Stephen Abbs, Francine Thonney, France Leturcq, Johannes A. Lobrinus, Tarek Yousry, Simon Farmer, Janice L. Holton, Michael G. Hanna
Publikováno v:
Archives of Neurology, Vol. 67, No 4 (2010) pp. 497-500
ResearcherID
Archives of Neurology, vol. 67, no. 4, pp. 497-500
ResearcherID
Archives of Neurology, vol. 67, no. 4, pp. 497-500
Objective To describe the clinical and molecular genetic findings in 2 carriers of Duchenne muscular dystrophy (DMD) who exhibited marked hemiatrophy. Duchenne muscular dystrophy is an X-linked disorder in which affected male patients harbor mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40386fe11a5d3b5f9b7b4fe14aa3acfe
https://archive-ouverte.unige.ch/unige:21243
https://archive-ouverte.unige.ch/unige:21243
