Zobrazeno 1 - 6
of 6
pro vyhledávání: '"S Hussain Askree"'
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101655- (2024)
Externí odkaz:
https://doaj.org/article/576253484bbe426b809093f0154bb54e
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
As exome and genome sequencing using high-throughput sequencing technologies move rapidly into the diagnostic process, laboratories and clinicians need to develop a strategy for dealing with uncertain findings. A commitment must be made to minimize t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b20e1e0e84c545b11ff050889cc2231
https://doi.org/10.1038/gim.2016.67
https://doi.org/10.1038/gim.2016.67
Autor:
S. Hussain Askree, Madhuri Hegde
Publikováno v:
Molecular Genetics and Personalized Medicine ISBN: 9781617795299
Variations in the human genome range from single nucleotide changes to whole chromosomal aneuploidies. De novo single nucleotide changes are estimated to occur at a rate of 1.7 × 10−8 per nucleotide in every generation (Kondrashov, Hum Mutat 21(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cd20e6c253b234af4166fc8e4b9edc9
https://doi.org/10.1007/978-1-61779-530-5_2
https://doi.org/10.1007/978-1-61779-530-5_2
Publikováno v:
The Journal of molecular diagnostics : JMD. 14(3)
The Prader-Willi/Angelman syndrome critical region (PWS/ASCR), located at chromosome 15q11-q13, is associated with several diseases. Absence of paternally expressed genes in this region cause Prader-Willi syndrome (PWS), whereas absence of the matern
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b57d6f02294729f668e7feee180a8a04
https://pubmed.ncbi.nlm.nih.gov/22426236
https://pubmed.ncbi.nlm.nih.gov/22426236
Autor:
Madhuri Hegde, Alice K. Tanner, Lora J. H. Bean, S Hussain Askree, Bradford Coffee, Ephrem L H Chin
Publikováno v:
BMC Genetics
Background Pathogenic mutations range from single nucleotide changes to deletions or duplications that encompass a single exon to several genes. The use of gene-centric high-density array comparative genomic hybridization (aCGH) has revolutionized th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98487961e2f157115b3cedada451b4b4
http://europepmc.org/articles/PMC4235222
http://europepmc.org/articles/PMC4235222
Autor:
Hussain Askree S; Emory Genetics Laboratory, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA., Hjelm LN, Ali Pervaiz M, Adam M, Bean LJ, Hedge M, Coffee B
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2011 Jan; Vol. 13 (1), pp. 108-12. Date of Electronic Publication: 2010 Dec 23.