نتایج جستجو برای: carrier detection

تعداد نتایج: 633978  

Journal: :Analytical sciences : the international journal of the Japan Society for Analytical Chemistry 2010
Seiji Ishimoto Naoya Jinno Masahiko Hashimoto Kazuhiko Tsukagoshi

Capillary chromatography for the separation of optical isomers was developed using an untreated poly(tetrafluoroethylene) capillary tube and a water-hydrophilic/hydrophobic organic solvent mixture as a carrier solution. The open tubular capillary was 110 cm in length (90 cm effective length) and 100 microm in inner diameter. The carrier solution was prepared with a water-acetonitrile-ethyl acet...

2017
Robert W Old Jonathan P Bestwick Nicholas J Wald

Background: Prenatal cystic fibrosis (CF) screening is currently based on determining the carrier status of both parents. We propose a new method based only on the analysis of DNA in maternal plasma. Methods: The method relies on the quantitative amplification of the CF gene to determine the percentage of DNA fragments in maternal plasma at targeted CF mutation sites that carry a CF mutation. C...

2004
Tae-Mi Lee Sang-Wun Kim Kwang-Soo Lee Hyun-Seok Jin Soo Kyung Koo Inho Jo Seongman Kang Sung-Chul Jung

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reliable quantitative real-time PCR with SYBR Green I dye and studied 13 patients...

Journal: :IEICE Transactions 2010
Tetsuya Yamamoto Kazuaki Takeda Fumiyuki Adachi

One-tap frequency-domain equalization (FDE) based on the minimum mean square error (MMSE) criterion can significantly improve the bit error rate (BER) performance of single-carrier (SC) transmission in a frequency-selective fading channel. However, a big performance gap from the theoretical lower bound still exists due to the presence of residual inter-symbol interference (ISI) after MMSE-FDE. ...

Journal: :Hearing research 2010
I-Hui Hsieh Kourosh Saberi

Many natural sounds such as speech contain concurrent amplitude and frequency modulation (AM and FM), with the FM components often in the form of directional frequency sweeps or glides. Most studies of modulation coding, however, have employed one modulation type in stationary carriers, and in cases where mixed-modulation sounds have been used, the FM component has typically been confined to an...

Journal: :Blood 1985
J B Graham P P Green R A McGraw L M Davis

Prenatal diagnosis and carrier detection in the hemophilias have received much attention in recent years. The error rate in prenatal diagnosis by fetoscopy is less than 1%; fetoscopy is not possible, however, until the second trimester of pregnancy. Carrier detection based on bioassays of plasma has an irreducible error rate (approximately 5%?), because of the "lyonization" phenomenon in hetero...

Journal: :cell journal 0

introduction: duchene/ becker (dmd/bmd) muscular dystrophy is the most frequent neuromuscular disease in children which is inherited as an x-linked recessive trait. the disease is caused by partial deletion in dystrophin gene. we developed a rapid and robust method for direct identification of female carriers of deletions and duplications in the dystrophin gene, in order to prevent the affected...

Journal: :Clinical chemistry 2000
E L Romppanen I Mononen

BACKGROUND Congenital nephrotic syndrome of Finnish type (NPHS1) is an autosomal recessive disorder characterized by severe proteinuria of intrauterine onset. Ninety-four percent of the Finnish NPHS1 chromosomes have been reported to carry either a 2-bp deletion in exon 2 (Fin(Major)) or a nonsense mutation in exon 26 (Fin(Minor)) of the NPHS1 gene. The high prevalence of only two mutations in ...

Journal: :The Journal of the Acoustical Society of America 2005
Christian Füllgrabe Brian C J Moore Laurent Demany Stephan D Ewert Stanley Sheft Christian Lorenzi

Recent studies suggest that an auditory nonlinearity converts second-order sinusoidal amplitude modulation (SAM) (i.e., modulation of SAM depth) into a first-order SAM component, which contributes to the perception of second-order SAM. However, conversion may also occur in other ways such as cochlear filtering. The present experiments explored the source of the first-order SAM component by inve...

2014
Shayla Sawyer Dali Shao

UV photodetectors have been investigated for various commercial and military applications, such as secure space-to-space communications, pollution monitoring, water sterilization, flame sensing, and early missile plume detection [1]. To date, epitaxially grown or bulk wide bandgap semiconductors such as GaN, AlN, AlGaN, C (diamond), and SiC have been used for ultraviolet detection [2–12]. Fabri...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید