نتائج البحث - "Anthony Musolf"

1

دورية أكاديمية

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

المؤلفون: Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti

المصدر: Genes, Vol 13, Iss 9, p 1649 (2022)

مصطلحات موضوعية: Ulnar Mammary Syndrome, TBX3, EFNA4, sagittal craniosynostosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/9/1649Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/c0272b7416544762a93971db0c9373fcTest

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النص الكامل

2

A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration

المؤلفون: Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C.M. Kneepkens, Jason Charng, Yu Huang, Michael L. Hunter, Chen Jiang, J.Willem L. Tideman, Ronald B. Melles, Caroline C.W. Klaver, David A. Mackey, Cathy Williams, Hélène Choquet, Kyoko Ohno-Matsui, Jeremy A. Guggenheim, Joan E. Bailey-Wilson, Paul N. Baird, Veluchamy A. Barathi, Ginevra Biino, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y. Chew, Jamie E. Craig, Margaret M. Deangelis, Cécile Delcourt, Xiaohu Ding, Qiao Fan, Maurizio Fossarello, Paul J. Foster, Puya Gharahkhani, Xiaobo Guo, Annechien E.G. Haarman, Toomas Haller, Christopher J. Hammond, Xikun Han, Caroline Hayward, Mingguang He, Alex W. Hewitt, Quan Hoang, Pirro G. Hysi, Adriana I. Iglesias, Robert P. Igo, Sudha K. Iyengar, Jost B. Jonas, Mika Kähönen, Jaakko Kaprio, Anthony P. Khawaja, Barbara E. Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimäki, Deyana Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikäinen, Stuart MacGregor, Nicholas G. Martin, Akira Meguro, Andres Metspalu, Candace Middlebrooks, Masahiro Miyake, Nobuhisa Mizuki, Anthony Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Olavi Pärssinen, Andrew D. Paterson, Norbert Pfeiffer, Ozren Polasek, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Srujana Sahebjada, Seang-Mei Saw, Claire L. Simpson, Dwight Stambolian, E-Shyong Tai, Milly S. Tedja, J. Willem L. Tideman, Akitaka Tsujikawa, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Veronique Vitart, Ningli Wang, Ya Xing Wang, Juho Wedenoja, Wen Bin Wei, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Jason C.S. Yam, Kenji Yamashiro, Maurice K.H. Yap, Seyhan Yazar, Shea Ping Yip, Terri L. Young, Xiangtian Zhou, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Catey Bunce, Roxana Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Valentina Cipriani, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, David Garway-Heath, Jane Gibson, Dan Gore, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse A. Keane, Peng Tee Khaw, Anthony Khawaja, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Danny Mitry, Tony Moore, James Morgan, Zaynah Muthy, Eoin O'Sullivan, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Caroline Thaung, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Stephen Vernon, Ananth Viswanathan, Katie Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng

المساهمون: Neurology, Ophthalmology, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Neuroinfection & -inflammation, Epidemiology, Clinical Genetics, Erasmus MC other

المصدر: Ebiomedicine, 91
EBioMedicine, 91:104551. Elsevier BV
EBioMedicine, 91:104551. Elsevier
CREAM Consortium & UK Biobank Eye and Vision Consortium 2023, ' A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration ', EBioMedicine, vol. 91, 104551 . https://doi.org/10.1016/j.ebiom.2023.104551Test

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, General Medicine, General Biochemistry, Genetics and Molecular Biology, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fd21d2859c5d7aa472ef1a88a960a34Test
https://doi.org/10.1016/j.ebiom.2023.104551Test

3

دورية أكاديمية

IMI - Myopia Genetics Report

المؤلفون: Milly S. Tedja, Annechien E. G. Haarman, Magda A. Meester-Smoor, Jaakko Kaprio, David A. Mackey, Jeremy A. Guggenheim, Christopher J. Hammond, Virginie J. M. Verhoeven, Caroline C. W. Klaver, Joan E. Bailey-Wilson, Paul Nigel Baird, Amutha Barathi Veluchamy, Ginevra Biino, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y. Chew, Jamie E. Craig, Phillippa M. Cumberland, Margaret M. Deangelis, Cecile Delcourt, ́ Xiaohu Ding, Cornelia M. van Duijn, David M. Evans, Qiao Fan, Maurizio Fossarello, Paul J. Foster, Puya Gharahkhani, Adriana I. Iglesias, Xiaobo Guo Annechien E. G. Haarman, Toomas Haller, Xikun Han, Caroline Hayward, Mingguang He, Alex W. Hewitt, Quan Hoang, Pirro G. Hysi, Robert P. Igo Jr., Sudha K. Iyengar, Jost B. Jonas, Mika Kahonen, Anthony P. Khawaja, Barbara E. Klein, Ronald Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimaki, Deyana Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikainen, Stuart MacGregor, Nicholas G. Martin, Akira Meguro, Andres Metspalu, Candace Middlebrooks, Masahiro Miyake, Nobuhisa Mizuki, Anthony Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Olavi Parssinen, Andrew D. Paterson, Norbert Pfeiffer, Ozren Polasek, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Srujana Sahebjada, Seang-Mei Saw, Dwight Stambolian, Claire L. Simpson, E-Shyong Tai, J. Willem L. Tideman, Akitaka Tsujikawa, Veronique Vitart, Ningli Wang, Juho Wedenoja, Wen Bin Wei, Cathy Williams, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Ya Xing Wang, Kenji Yamashiro, Jason C. S. Yam, Maurice K. H. Yap, Seyhan Yazar, Shea Ping Yip, Terri L. Young, Xiangtian Zhou

المساهمون: Tedja, Milly S., Haarman, Annechien E. G., Meester-Smoor, Magda A., Kaprio, Jaakko, Mackey, David A., Guggenheim, Jeremy A., Hammond, Christopher J., Verhoeven, Virginie J. M., Klaver, Caroline C. W., Bailey-Wilson, Joan E., Nigel Baird, Paul, Barathi Veluchamy, Amutha, Biino, Ginevra, Burdon, Kathryn P., Campbell, Harry, Jia Chen, Li, Cheng, Ching-Yu, Chew, Emily Y., Craig, Jamie E., Cumberland, Phillippa M., Deangelis, Margaret M., Delcourt, Cecile, Xiaohu Ding, ́, van Duijn, Cornelia M., Evans, David M., Fan, Qiao, Fossarello, Maurizio, Foster, Paul J., Gharahkhani, Puya, Iglesias, Adriana I., Haarman, Xiaobo Guo Annechien E. G., Haller, Tooma, Han, Xikun, Hayward, Caroline, He, Mingguang, Hewitt, Alex W., Hoang, Quan, Hysi, Pirro G., P. Igo Jr., Robert, Iyengar, Sudha K., Jonas, Jost B., Kahonen, Mika, Khawaja, Anthony P., Klein, Barbara E., Klein, Ronald, Lass, Jonathan H., Lee, Kri, Lehtimaki, Terho, Lewis, Deyana, Li, Qing, Li, Shi-Ming, Lyytikainen, Leo-Pekka, Macgregor, Stuart, Martin, Nicholas G., Meguro, Akira, Metspalu, Andre, Middlebrooks, Candace, Miyake, Masahiro, Mizuki, Nobuhisa, Musolf, Anthony, Nickels, Stefan, Oexle, Konrad, Pui Pang, Chi, Parssinen, Olavi, Paterson, Andrew D., Pfeiffer, Norbert, Polasek, Ozren, Rahi, Jugnoo S., Raitakari, Olli, Rudan, Igor, Sahebjada, Srujana, Saw, Seang-Mei, Stambolian, Dwight, Simpson, Claire L., Tai, E-Shyong, Tideman, J. Willem L., Tsujikawa, Akitaka, Vitart, Veronique, Wang, Ningli, Wedenoja, Juho, Bin Wei, Wen, Williams, Cathy, Williams, Katie M., Wilson, James F., Wojciechowski, Robert, Xing Wang, Ya, Yamashiro, Kenji, Yam, Jason C. S., Yap, Maurice K. H., Yazar, Seyhan, Ping Yip, Shea, Young, Terri L., Zhou, Xiangtian

مصطلحات موضوعية: myopia, refractive error, genetics, GWAS, GxE interactions

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30817828; info:eu-repo/semantics/altIdentifier/wos/WOS:000460128100005; volume:60; issue:3; firstpage:M89; lastpage:M105; numberofpages:17; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11584/273538Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063359684; https://iovs.arvojournals.org/article.aspx?articleid=2727314Test

الإتاحة: https://doi.org/10.1167/iovs.18-25965Test
http://hdl.handle.net/11584/273538Test
https://iovs.arvojournals.org/article.aspx?articleid=2727314Test

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