Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lindsay Paull"'
Autor:
Jill A. Rosenfeld, David J. Amor, Wendy E. Smith, Rosemarie Smith, Allen N. Lamb, Joseph Cook, Anne Slavotinek, Valerie Banks, Susan Zelewski, Victoria A. Cox, Joao Silva, Rachel Sullivan, Helen V. Firth, Marie T. McDonald, Jennifer Kussmann, Jonathan Zonana, Albert K. Oh, Mark C. Hannibal, Lindsay Paull, Kory Keller, Jerome L. Gorski, Natasha Shur, Eric M. Morrow, Lionel Willatt, Susie Ball, Evan E. Eichler, Patricia G. Wheeler, Raoul C.M. Hennekam, Kenneth N. Rosenbaum, Heather C Mefford
Publikováno v:
Journal of medical genetics, 49(2), 110-118. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics
Background Chromosome 15q24 microdeletion syndrome is a rare genomic disorder characterised by intellectual disability, growth retardation, unusual facial morphology and other anomalies. To date, 20 patients have been reported; 18 have had detailed b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158cdf4980b4bc6fb672817cf7f0b5c9
https://pure.amc.nl/en/publications/further-clinical-and-molecular-delineation-of-the-15q24-microdeletion-syndrome(67ea9dac-222d-4ffb-8ac4-a07e4893c2dd).html
https://pure.amc.nl/en/publications/further-clinical-and-molecular-delineation-of-the-15q24-microdeletion-syndrome(67ea9dac-222d-4ffb-8ac4-a07e4893c2dd).html
Publikováno v:
JIMD Reports ISBN: 9783642257513
Fabry disease, an X-linked lysosomal storage disorder, is caused by the deficiency of the alpha-galactosidase A enzyme and the progressive accumulation of globotriaosylceramide in vascular endothelial cells. The multi-systemic manifestations of Fabry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a0889b118b420d6a5dca64cedbc827b
https://doi.org/10.1007/8904_2011_108
https://doi.org/10.1007/8904_2011_108
Autor:
Pasi A. Koivisto, Rega Saadut, E. Hyytinen, Robert L. Vessella, Lindsay Paull, Jin-Tang Dong, Henry F. Frierson, Ceshi Chen
Publikováno v:
Genes, chromosomescancer. 34(3)
Deletion of the long arm of chromosome 6 (6q) frequently occurs in many neoplasms, including carcinomas of the prostate and breast and melanoma, suggesting the location of a tumor-suppressor gene or genes at 6q. At present, however, the region of del
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21f5dca8808f98eeb95810a1b6a2f661
https://pubmed.ncbi.nlm.nih.gov/12007191
https://pubmed.ncbi.nlm.nih.gov/12007191
Autor:
Lindsay Paull, Shawn E Lipinski
Publikováno v:
Journal of Genetic Counseling. 21:224-225
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03c3147d706f1770aba9550376bc350e
https://doi.org/10.1007/s10897-011-9451-0
https://doi.org/10.1007/s10897-011-9451-0