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Results: 9
Automated typing of red blood cell and platelet antigens
William J Lane, Connie M Westhoff, Nicholas S Gleadall, Maria Aguad, Robin Smeland-Wagman, Sunitha Vege, Daimon P Simmons, Helen H Mah, Matthew S Lebo, Klaudia Walter, Nicole Soranzo, Emanuele Di Angelantonio, John Danesh, David J Roberts, Nick A Watkins, Willem H Ouwehand, Adam S Butterworth, Richard M Kaufman, Heidi L Rehm, Leslie E Silberstein, Robert C Green, MedSeq Project
Oct 10, 2018
BACKGROUND: There are more than 300 known red blood cell (RBC) antigens and 33 platelet antigens that differ between individuals. Sensitisation to antigens is a serious complication that can occur in prenatal medicine and after...
ABO Blood-Group System Adolescent Adult Aged Aged 80 and over Algorithms Antigens Human Platelet Blood Grouping and Crossmatching Blood Platelets Databases Genetic Erythrocytes Genome Human Humans Middle Aged Randomized Controlled Trials as Topic Rh-Hr Blood-Group System whole genome sequencing Young Adult
Malevolent Node Detection Based on Network Parameters Mining in Wireless Sensor Networks
The exponential growth of the internet of things and united applications have renewed the scholarly world to grow progressively proficient routing strategies. Quality of service (QoS) and reduced power consumption are the major...
Published by: IGI Global Scientific Publishing
Severe neurodevelopmental disease caused by a homozygous TLK2 variant
Ana Töpf, Yavuz Oktay, Sunitha Balaraju, Elmasnur Yilmaz, Ece Sonmezler, Uluc Yis, Steven Laurie, Rachel Thompson, Andreas Roos, Daniel G. MacArthur, Ahmet Yaramis, Serdal Güngör, Hanns Lochmüller, Semra Hiz, Rita Horvath
Apr 27, 2021
Abstract: A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described....
Severe neurodevelopmental disease caused by a homozygous TLK2 variant.
Ana Töpf, Yavuz Oktay, Sunitha Balaraju, Elmasnur Yilmaz, Ece Sonmezler, Uluc Yis, Steven Laurie, Rachel Thompson, Andreas Roos, Daniel G MacArthur, Ahmet Yaramis, Serdal Güngör, Hanns Lochmüller, Semra Hiz, Rita Horvath
Jun 17, 2019
Patterns of microchromosome organization remain highly conserved throughout avian evolution.
Rebecca E O'Connor, Lucas Kiazim, Ben Skinner, Gothami Fonseka, Sunitha Joseph, Rebecca Jennings, Denis M Larkin, Darren K Griffin
Dec 17, 2018
The structure and organization of a species genome at a karyotypic level, and in interphase nuclei, have broad functional significance. Although regular sized chromosomes are studied extensively in this regard, microchromosomes...
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.
Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath
Feb 09, 2021
Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings...
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A Barbosa, Charu Deshpande, Robert W Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Nalini Atchayaram, Hanns Lochmüller
Oct 15, 2019
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant
Sunitha Balaraju, Ana Töpf, Grace McMacken, Veeramani Preethish Kumar, Astrid Pechmann, Helen Roper, Seena Vengalil, Kiran Polavarapu, Saraswati Nashi, Niranjan Prakash Mahajan, Ines A. Barbosa, Charu Deshpande, Robert W. Taylor, Judith Cossins, David Beeson, Steven Laurie, Janbernd Kirschner, Rita Horvath, Robert McFarland, Atchayaram Nalini, Hanns Lochmüller
Sep 15, 2020
Abstract: Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate...
A survey by the European Society of Breast Imaging on the implementation of breast diffusion-weighted imaging in clinical practice.
Roberto Lo Gullo, Varadan Sevilimedu, Pascal Baltzer, Denis Le Bihan, Julia Camps-Herrero, Paola Clauser, Fiona J Gilbert, Mami Iima, Ritse M Mann, Savannah C Partridge, Andrew Patterson, Eric E Sigmund, Sunitha Thakur, Fabienne E Thibault, Laura Martincich, Katja Pinker, EUSOBI International Breast Diffusion-Weighted Imaging working group
Jun 07, 2022
OBJECTIVES: To perform a survey among all European Society of Breast Imaging (EUSOBI) radiologist members to gather representative data regarding the clinical use of breast DWI. METHODS: An online questionnaire was developed by...