Zobrazeno 1 - 10
of 856
pro vyhledávání: '"Low, PS."'
Publikováno v:
In Genetics in Medicine Open 2024 2 Supplement 1
Autor:
Low, PS
This study attempts to assess the air quality in the lower Tamar Valley where Bell Bay industrial area, one of the most important industrial centres in northern Tasmania, is located. The major sources of air emissions in the area include an aluminium
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::699a9ceabb9b55e998f2d7c7ea62b724
Autor:
Yasuhiro Takeshima, Poh San Lai, Kayoko Saito, Low Ps, Hisahide Nishio, Tomoto Yamamoto, Toshio Saito, Satoru Morikawa, Noriyuki Nishimura, Yuji Kubo, Dian Kesumapramudya Nurputra, Atsuko Takeuchi, Stacey K.H. Tay, Nur Imma Fatimah Harahap, Yumi Tohyama
Publikováno v:
Annals of Human Genetics. 77:435-463
Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the disease has been estimated at 1 in 6000-10,000 newborns with a carrier frequen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d483cf05362dcaf4d36d1d9a4d1fdf29
https://doi.org/10.1111/ahg.12031
https://doi.org/10.1111/ahg.12031
Publikováno v:
Annals of Human Genetics. 70:951-957
Summary Factor VII (FVII) is an independent risk factor for coronary artery disease. Three polymorphisms of the factor VII gene (F7) were studied in a group of healthy newborns comprising 561 Chinese, 398 Malays and 226 Asian Indians from Singapore.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9572c2fd72d67e9d3bab2310bf220d07
https://doi.org/10.1111/j.1469-1809.2006.00282.x
https://doi.org/10.1111/j.1469-1809.2006.00282.x
Publikováno v:
Clinical Neurophysiology. 115:951-955
Objective : To study the effects of providing simple instructions for partial sleep deprivation on the necessity for sedation in children and adolescents undergoing electroencephalography (EEG). Methods : Children and adolescents below 18 years under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2862f1fd169fb0d70640addb91fe7df8
https://doi.org/10.1016/j.clinph.2003.11.012
https://doi.org/10.1016/j.clinph.2003.11.012
Autor:
Masafumi Matsuo, Kayo Adachi, Yasuhiro Takeshima, Hoan Thi Nguyen, Khanh van Tran, Low Ps, Poh San Lai
Publikováno v:
Journal of Human Genetics. 47:0552-0555
The frequency and distribution of deletions of 19 deletion-prone exons clustered in two hot spots in the proximal and central regions of the dystrophin gene were compared in three populations from Singaporean, Japan, and Vietnam. DNA samples obtained
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbd4858bcad2cbab4f8b4f47a82ded5d
https://doi.org/10.1007/s100380200084
https://doi.org/10.1007/s100380200084
Publikováno v:
Analytical Biochemistry. 410:158-160
Heteroduplex formation, required for the complete detection of hemi/homozygotes using high-resolution melting analysis, can be induced either by pre-PCR mixing of genomic DNAs or by post-PCR mixing of PCR products from unknown and reference samples.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96d33c649a32942570e05e2745630df7
https://doi.org/10.1016/j.ab.2010.11.031
https://doi.org/10.1016/j.ab.2010.11.031
Publikováno v:
Journal of Paediatrics and Child Health. 34:283-287
Objective: Tuberous sclerosis is a genetic disorder with multisystem involvement. The aim of this study was to focus primarily on the cardiac aspects of this condition. Method: This review included 10 children with tuberous sclerosis presenting to ou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46c09eccc2114c13be0e23eaebe6662
https://doi.org/10.1046/j.1440-1754.1998.00218.x
https://doi.org/10.1046/j.1440-1754.1998.00218.x
Publikováno v:
Arteriosclerosis and Thrombosis: A Journal of Vascular Biology. 14:1923-1927
Plasma factor VII activity (factor VIIc) is one of the independent risk factors for coronary artery disease and is controlled by both genetic and environmental factors. Several studies in healthy Caucasian subjects have revealed an association of a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a5723318a49f78f3519e8e1efb25c54
https://doi.org/10.1161/01.atv.14.12.1923
https://doi.org/10.1161/01.atv.14.12.1923