Publications related to Preimplantation genetic diagnosis

Design and in vitro Characterization of a Wearable Multisensing System for Hydration Monitoring

Sandro Carrara, Ali Meimandi, Ata Jedari Golparvar, Sarah Tonello

Dehydration is a frequent condition in the elderly and can lead to serious health complications if not compensated timely. Early diagnosis can be problematic, as medical examinations in the hospital would be needed. Fully wearable low-cost multisensing dev ...

Ieee-Inst Electrical Electronics Engineers Inc2024

Solid-State Nanopores for Biomolecular Analysis and Detection

Nako Nakatsuka, Annina Stuber

Advances in nanopore technology and data processing have rendered DNA sequencing highly accessible, unlocking a new realm of biotechnological opportunities. Commercially available nanopores for DNA sequencing are of biological origin and have certain disad ...

Springer Link2024

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Valeriia Timonina, Konstantin Popadin

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...

MDPI2023

Paris, Transit: plate-forme alimentaire du dernier kilomètre

Manuel Rossi, Marie-Ange Farrell

Au nord de la Porte de la Villette, un hypermarché et un parking désaffectés, communément appelé « le Mausolée », s’insèrent transversalement sous la ceinture continue que constitue le boulevard périphérique, entre la ville-centre et le périurbain. Ce mono ...

2023

Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort

Jacques Fellay, Christian Axel Wandall Thorball

Type 2 diabetes mellitus (T2DM) can be multifactorial where both genetics and environmental factors play a role. We aimed to investigate the use of polygenic risk scores (PRS) in the prediction of pre-transplant T2DM and post-transplant diabetes mellitus ( ...

Lausanne2023

Agency Deficits in a Human Genetic Model of Schizophrenia: Insights From 22q11DS Patients

Olaf Blanke, Maude Schneider, Nathan Quentin Faivre, Roy Salomon, Oliver Alan Kannape, Mariia Kaliuzhna, Henrique Galvan Debarba

Schizophrenia is a chronic and disabling mental illness characterized by a disordered sense of self. Current theories suggest that deficiencies in the sense of control over one’s actions (Sense of Agency, SoA) may underlie some of the symptoms of schizophr ...

2022

NMR spectroscopy of a single mammalian early stage embryo

Jürgen Brugger, Giovanni Boero, Marco Grisi, Gaurasundar Marc Conley, Kyle Joel Rodriguez

The resolving power, chemical sensitivity and non-invasive nature of NMR have made it an established technique for in vivo studies of large organisms both for research and clinical applications. NMR would clearly be beneficial for analysis of entities at t ...

ACADEMIC PRESS INC ELSEVIER SCIENCE2022

Challenges and Opportunities of Edge AI for Next-Generation Implantable BMIs

Mahsa Shoaran, Mohammad Ali Shaeri, Arshia Afzal

Neuroscience and neurotechnology are currently being revolutionized by artificial intelligence (AI) and machine learning. AI is widely used to study and interpret neural signals (analytical applications), assist people with disabilities (prosthetic applica ...

IEEE2022

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