Results 111 to 120 of about 543,244 (313)

CYFC Consortium Connections, Spring 1992, Vol 1, No 2

, 1992
This archival publication may not reflect current scientific knowledge or recommendations. Current information available from the University of Minnesota Extension: https://www.extension.umn.edu.Children, Youth & Family Consortium. (1992).
Children, Youth & Family Consortium
core  

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Crystal Digital PCR™ Enables Precise Quantification of Species Abundance in Microbial Mixtures

Microorganisms
Accurate bacterial quantification is critical in many biological fields, from clinical diagnostics to environmental microbiology. Here, we establish a robust workflow for absolute quantification of bacterial species within mixed communities using Crystal
Louis Delecourt, Mila Reset, Lionel Bertaux, James Sturgis, Yann Denis, Marie-Thérèse Giudici-Orticoni, Magali Roger, Christophe Bordi   +7 more
doaj   +1 more source

Konsorcjum w prawie zamówień publicznych – solidarność czynna i bierna wobec osób trzecich w postępowaniu i na etapie realizacji umowy

Acta Iuris Stetinensis, 2018
The main purpose of the article is an analysis of the consortium in the provisions of the public procurement law in terms of joint and several liability. There are many conceptions of the examined issue which are reflected in various legal acts.
Maciej Stanisław Ratajczak
doaj   +1 more source

The Skin Genetics Consortium

British Journal of Dermatology
This perspectives piece provides an overview of the vision and objectives of the Skin Genetics Consortium, an international consortium seeking to identify the genetic mechanisms of common and complex skin diseases.
Lynn Petukhova, Nick Dand, Katie Watts, Jake Saklatvala, Atlas Khan, Drew Hite, Noël P Burtt, Lavinia Paternoster, Michael A Simpson   +8 more
openaire   +2 more sources

Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Pharmacogenetics-Guided Warfarin dosing: 2017 Update

Clinical pharmacology and therapy, 2017
This document is an update to the 2011 Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2C9 and VKORC1 genotypes and warfarin dosing.
Julie A. Johnson, K. Caudle, L. Gong, M. Whirl‐Carrillo, C. Stein, S. Scott, M. M. Lee, B. Gage, S. Kimmel, M. Perera, Jeffrey L. Anderson, M. Pirmohamed, T. Klein, N. Limdi, L. Cavallari, M. Wadelius   +15 more
semanticscholar   +1 more source

CYFC Consortium Connections, Spring 1994, Vol 3, No 2

, 1994
This archival publication may not reflect current scientific knowledge or recommendations. Current information available from the University of Minnesota Extension: https://www.extension.umn.edu.Children, Youth & Family Consortium. (1994).
Children, Youth & Family Consortium
core  

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

CYFC Consortium Connections, Spring 1993, Vol 2, No 2

, 1993
This archival publication may not reflect current scientific knowledge or recommendations. Current information available from the University of Minnesota Extension: https://www.extension.umn.edu.Children, Youth & Family Consortium. (1993).
Children, Youth & Family Consortium
core  

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source