Results 31 to 40 of about 10,771 (173)

Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review

Molecular Genetics &Genomic Medicine, Volume 9, Issue 8, August 2021., 2021
In the present report, distinctive prenatal sonographic findings from 13 gestational weeks (such as increased nuchal translucency, cleft lip and palate, heart defect and over growth) led to molecular diagnosis. Single Nucleotide Polymorphism Array (SNP array) revealed a de novo 370Kb‐deletion covering the 5′‐UTR and exon 1 of GPC3 gene, which was ...
Jing Liu, Qin Liu, Shuting Yang, Na Ma, Jialun Pang, Ying Peng, Hui Xi, Zhengjun Jia, Yingchun Luo, Meiping Jiang, Yanling Teng, Wenxian Yu, Zhuo Li, Hua Wang   +13 more
wiley   +1 more source

Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies

Molecular Genetics &Genomic Medicine, Volume 9, Issue 5, May 2021., 2021
MPSS based‐NIPT can be considered as performant for the detection of 45,X in high‐risk pregnancies, although this result is based on studies that might contain biases. For the other SCAs including 47,XXX, 47,XXY, and 47,XYY, more quality studies are still needed.
Bounhome Soukkhaphone, Carmen Lindsay, Sylvie Langlois, Julian Little, Francois Rousseau, Daniel Reinharz   +5 more
wiley   +1 more source

Determination of Apomictic Fruit Set Ratio in Several Romanian Walnut (Juglans regia L.) Cultivars

Notulae Botanicae Horti Agrobotanici Cluj-Napoca, 2012
carried out to determine the ability of apomictic fruit setting in twelve Romanian walnut cultivars. ‘Sibisel 44’, ‘Geoagiu 65’, ‘Germisara’, ‘Muscelean’, ‘Sarmis’, ‘Valcor’, ‘Valmit’, ‘Valrex’, ‘Jupanesti’, ‘Velnita’, ‘Orastie’ and ‘Argesean’ cultivars ...
Sina Niculina COSMULESCU, Mihai BOTU, Gheorghe ACHIM   +2 more
doaj   +1 more source

Spaces for servants and provendarii in Early Medieval Monasteries. The example of the virtual monastery on the Plan of Saint Gall

Bulletin du Centre d’Études Médiévales d’Auxerre, 2015
Der St. Galler Klosterplan stellt ein großes frühmittelalterliches Benediktinerkloster vorwiegend im Grundriss dar. Nach allem was wirwissen, wurde die Tuschzeichnung auf Pergament (ca.
Alfons Zettler
doaj   +1 more source

Participatory Microbiome Research With Hmong and Karen Communities: Lessons Learned

Journal of Participatory Research Methods, 2021
In this brief report, we share lessons learned from the Immigrant Microbiome Project (IMP), a microbiome research study conducted in partnership with the Hmong and Karen communities in Minnesota.
Pajau Vangay, Nancy Yang, Shannon Pergament, Mary Xiong, Bwei Paw, Rodolfo Batres, Dan Knights, Kathleen A. Culhane-Pera   +7 more
doaj   +1 more source

Adhesion and patterning of cortical neurons on polyethylenimine and fluorcarboncoated surfaces [PDF]

, 2000
In this study adhesion and patterning of cortical neurons on modified glass surfaces was investigated. Patterns of cortical neurons were prepared with a combination of polyethylenimine (PEI) and plasma-deposited fluorocarbon (FC).
Goedbloed, M.H., Ruardij, T.G., Rutten, W.L.C.   +2 more
core   +11 more sources

Towards single-cell ionomics: a novel micro-scaled method for multi-element analysis of nanogram-sized biological samples

Plant Methods, 2020
Background To understand processes regulating nutrient homeostasis at the single-cell level there is a need for new methods that allow multi-element profiling of biological samples ultimately only available as isolated tissues or cells, typically in ...
Anle Chen, Thomas H. Hansen, Lene I. Olsen, Michael Palmgren, Søren Husted, Jan K. Schjoerring, Daniel Pergament Persson   +6 more
doaj   +1 more source

The role of the genetic counsellor: a systematic review of research evidence [PDF]

, 2014
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser, C Bennett, C Cordier, C James, Caroline Benjamin, Charlotta Ingvoldstad, Christophe Cordier, D Roter, E Pergament, E Smets, H Skirton, Heather Skirton, J Hartley, J Hodgson, J Ingles, JGR Kromberg, JGR Kromberg, KA Hines, KP Powell, L Ellington, LM Kmet, Nicolas Taris, P McCarthy-Veach, R Resta, RG Resta, SJ Lepore, V Braun, V Hannig   +27 more
core   +1 more source

A Minimum Leakage Quasi-Static RAM Bitcell

Journal of Low Power Electronics and Applications, 2011
As SRAMs continue to grow and comprise larger percentages of the area and power consumption in advanced systems, the need to minimize static currents becomes essential.
Adam Teman, Lidor Pergament, Omer Cohen, Alexander Fish   +3 more
doaj   +1 more source

Modification of the Properties of Vanadium Oxide Thin Films by Plasma-Immersion Ion Implantation

Advances in Condensed Matter Physics, 2018
The paper describes the effect of doping with hydrogen and tungsten by means of plasma-immersion ion implantation (PIII) on the properties of vanadium dioxide and hydrated vanadium pentoxide films.
Sergey Burdyukh, Olga Berezina, Alexander Pergament   +2 more
doaj   +1 more source