Results 161 to 170 of about 18,361 (285)

Multiplex ligation-dependent probe amplification MLPA) on-chip

, 2013
Polymerase chain reaction (PCR) has become an indispensable technique in clinical diagnostics. For integrated, lab-on-a-chip (LoC) solutions, multiplexed implementations of PCR are especially attractive; we describe the transfer and optimization of multiplex ligation-dependent probe amplification (MLPA) directly onto a silicon-based microfluidic chip ...
Peeters, Sara, Jones, Ben, Ibrahim, Omar, Wiederkehr, Rodrigo Sergio, Zhang, Lei, Tanaka, Hiroyuki, Matsuno, T., Yamashita, Ichiro, Majeed, Bivragh, Stakenborg, Tim, Fiorini, Paolo, Lagae, Liesbet   +11 more
openaire   +1 more source

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism. [PDF]

Genet Res (Camb)
Begemann M, Boy JAT, Kraft F, Vossschulte H, Barthlen W, Kummer S, Orlikowsky T, Torosoglu A, Eggermann T, Kurth I, Elbracht M, Pappa A.   +11 more
europepmc   +1 more source

The MLPA technique : an alternative for subtelometric rearrangenents investigation in developmental delay or idiopathic mental retardation

, 2009
Carolina Rodrigues Lincoln-de-Carvalho
openalex   +1 more source

The Impact of Complement Factor H-Related Protein Gene Deletions on Kidney Transplantation. [PDF]

Scand J Immunol
Markkinen S, Lokki AI, Helanterä I, Ritari J, Partanen J, Meri S, Hyvärinen K.   +6 more
europepmc   +1 more source

MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD [PDF]

, 2013
Juan Yang, Shao Y Li, Ya Q Li, Ji Q Cao, Shan W Feng, Yan Y Wang, Yi X Zhan, Chang S Yu, Fei Chen, Jing Li, Xiao F Sun, Cheng Zhang   +11 more
openalex   +1 more source

Clinical and Genetic Profiles of 11 Chinese Patients With Angelman Syndrome. [PDF]

Genet Res (Camb)
Qu S, Sun P, Dai L, Song C, Wang Y.
europepmc   +1 more source

High resolution analysis of MLPa amplicons using the Qiaxcel platform.

, 2015
De Smet Lina, Ravoet Jorgen, R. de Miranda Joachim, Wenseleers Tom, Y. Mueller Matthias, F. A. Moritz Robin, C. de Graaf Dirk   +6 more
openalex   +2 more sources

Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan. [PDF]

NPJ Genom Med
Lin LL, Chien PM, Hsiao TH, Ye HY, Liu SH, Ko TM, Huang CH, Chen PL, Chen WC, Chou YT, Wu CS, Chen HH, Chien YH, Hsu JS.   +13 more
europepmc   +1 more source

Custom-Designed MLPA Using Multiple Short Synthetic Probes [PDF]

The Journal of Molecular Diagnostics, 2010
Reza R. Serizawa, Ulrik Ralfkiær, Christina Dahl, Gitte W. Lam, Alastair B. Hansen, Kenneth Steven, Thomas Horn, Per Guldberg   +7 more
openaire   +1 more source

Growth hormone deficiency in three siblings homozygous for a rare <i>GH1</i> haplotype. [PDF]

Front Endocrinol (Lausanne)
Ribeiro AC, Omar OM, Abdalla E, Lemos MC.   +3 more
europepmc   +1 more source