Comparing library wayfinding among novices and experts

Autor: Holt Zaugg, Curtis Child, Dalton Bennett, Jace Brown, Melissa Alcaraz, Alexander Allred, Nathaniel Andrus, Drew Babcock, Maria Barriga, Madison Brown, Lindsey Bulloch, Todd Corbett, Michelle Curtin, Victoria Giossi, Samantha Hawkins, Sergio Hernandez, Kayia Jacobs, Jette Jones, David Kessler, Samuel Lee, Sara Mackay, Amy Marshall, Dallin Maxfield, Cory McFarland, Brennen Miller, Maia Roberson, Kristy Rogers, Devin Stoker, Manase Tonga, Abby Twitchell, Tinesha Zandamela

Publikováno v: Performance Measurement and Metrics, 2016, Vol. 17, Issue 1, pp. 70-82.

Externí odkaz: http://www.emeraldinsight.com/doi/10.1108/PMM-12-2015-0041

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

Autor: Angelika Rieß, Shabab B. Hannan, Hessa S. Alsaif, Tadahiro Mitani, Ghassan Balousha, Siddharth Banka, Kendall C. Parks, Reza Azizi Malamiri, Henry Houlden, James R. Lupski, Elliott H. Sherr, Emanuela Argilli, Joseph J. Gleeson, Osama Balousha, Jakob Admard, Thomas Nägele, Adam Jackson, Zaid Ghanim, Alistair T. Pagnamenta, Ana Velic, Sarah Dyack, Reza Maroofian, Holger Hengel, Hamad Al-Zaidan, Stefanie Schuster, Amber Begtrup, Neda Mazaheri, Helen Kingston, Stephan Ossowski, Davut Pehlivan, Ludger Schöls, Mohammad Yahya Vahidi Mehrjardi, Stefan Hauser, Tobias B. Haack, Sara MacKay, Gholamreza Shariati, Hamid Galehdari, Mathew Osmond, Nicolas Casadei, Martin Fleger, Sevcan Tug Bozdogan, Andreas Kurringer, Ulrich A. Schatz, Boris Macek, Fowzan S. Alkuraya, Mohammadreza Dehghani

Publikováno v: American journal of human genetics, vol 108, iss 6
The American journal of human genetics 108(6), 1069-1082 (2021). doi:10.1016/j.ajhg.2021.04.024
American Journal of Human Genetics
Care4Rare Canada Consortium 2021, ' Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1069-1082 . https://doi.org/10.1016/j.ajhg.2021.04.024

Summary BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b3a8a3a40ba3c0e4b68246c46199e4
https://escholarship.org/uc/item/7rn0f207

Author response for 'COL1 ‐related overlap disorder: a novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap'

Autor: Nicoletta Zoppi, Lucia Micale, Sara Mackay, Marco Ritelli, Alessandro Ferraris, Tommaso Mazza, Dario Cocciadiferro, Emanuele Agolini, Marco Castori, Maja Di Rocco, Annalisa Madeo, Antonio Novelli, Anthony Vandersteen, Cecilia Giunta, Silvia Morlino, Marianne Rohrbach, Paola Grammatico, Willie Reardon, Alan Hakim, Marina Colombi, Fransiska Malfait, Erina Sasaki

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2e93d2e0d3af16004d8caadb706e1f0
https://doi.org/10.1111/cge.13683/v3/response1

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

Autor: Sandhya Parkash, Sara Mackay, S. Gabrielle Horne, June Duong, Anthony Vandersteen, Andrea Rideout, Jill Beis, Ulrike Schwarze

Publikováno v: European journal of medical genetics. 63(2)

The Ehlers-Danlos syndromes (EDS) are heritable disorders of connective tissue (HDCT) with joint hypermobility, skin hyperextensibility and tissue fragility, which were recently re-classified (2017 International Classification). Most patients (>90%)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb3e87187273c43f7385cfc3e69b07d3
https://pubmed.ncbi.nlm.nih.gov/31323331

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Autor: Barbara Noble, Sandra Luscombe, Cathy Vardy, Lesley Turner, Victoria Crosbie, Eva Tucker, Sara MacKay, Stephen W. Scherer, Peter Szatmari, Stephen Meyn, Brian H.Y. Chung, Christian R. Marshall, Rosanna Weksberg, Kathy Whitten, Bridget A. Fernandez, Wendy Roberts, Ann M. Joseph-George

Publikováno v: Journal of medical genetics. 47(3)

Background Recurrent microdeletions and microduplications of ∼555 kb at 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or behavioural features have been identified that distinguish these ind

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91830797cb829aaa75becef5161d6784
https://pubmed.ncbi.nlm.nih.gov/19755429