Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Kin Mok"'
Autor:
Annette Karmiloff-Smith, Tamara Al-Janabi, Hana D'Souza, Jurgen Groet, Esha Massand, Kin Mok, Carla Startin, Elizabeth Fisher, John Hardy, Dean Nizetic, Victor Tybulewicz, Andre Strydom
Publikováno v:
F1000Research, Vol 5 (2016)
In this article, we first present a summary of the general assumptions about Down syndrome (DS) still to be found in the literature. We go on to show how new research has modified these assumptions, pointing to a wide range of individual differences
Externí odkaz:
https://doaj.org/article/bb058b43bffa4d67938df02e21160e7a
Autor:
Hiu Yi Wong, Huan Zhong, Mingqian Zhong, Xiaopu Zhou, Phillip Y.C. Chan, Timothy C.Y. Kwok, Kin Mok, John Hardy, Fanny C.F. Ip, Amy K.Y. Fu, Nancy Y. Ip
Publikováno v:
Journal of Alzheimer's Disease. 87:1205-1213
Background: Alzheimer’s disease (AD) is the most common cause of dementia in the elderly population. However, epidemiological studies on the demographics of AD in Hong Kong population are lacking. Objective: We investigated the demographics, comorb
Autor:
Rebecca R Valentino, William J Scotton, Shanu F Roemer, Tammaryn Lashley, Michael G Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L Walton, Matthew C Baker, Hannah L Macpherson, Raquel Real, Alexandra I Soto-Beasley, Kin Mok, Tamas Revesz, Thomas T Warner, Zane Jaunmuktane, Bradley F Boeve, Elizabeth A Christopher, Michael DeTure, Ranjan Duara, Neill R Graff-Radford, Keith A Josephs, David S Knopman, Shunsuke Koga, Melissa E Murray, Kelly E Lyons, Rajesh Pahwa, Joseph E Parisi, Ronald C Petersen, Jennifer Whitwell, Lea T Grinberg, Bruce Miller, Athena Schlereth, William W Seeley, Salvatore Spina, Murray Grossman, David J Irwin, Edward B Lee, EunRan Suh, John Q Trojanowski, Vivianna M Van Deerlin, David A Wolk, Theresa R Connors, Patrick M Dooley, Matthew P Frosch, Derek H Oakley, Iban Aldecoa, Mircea Balasa, Ellen Gelpi, Sergi Borrego-Écija, Rosa Maria de Eugenio Huélamo, Jordi Gascon-Bayarri, Raquel Sánchez-Valle, Pilar Sanz-Cartagena, Gerard Piñol-Ripoll, Laura Molina-Porcel, Eileen H Bigio, Margaret E Flanagan, Tamar Gefen, Emily J Rogalski, Sandra Weintraub, Javier Redding-Ochoa, Koping Chang, Juan C Troncoso, Stefan Prokop, Kathy L Newell, Bernardino Ghetti, Matthew Jones, Anna Richardson, Andrew C Robinson, Federico Roncaroli, Julie Snowden, Kieren Allinson, Oliver Green, James B Rowe, Poonam Singh, Thomas G Beach, Geidy E Serrano, Xena E Flowers, James E Goldman, Allison C Heaps, Sandra P Leskinen, Andrew F Teich, Sandra E Black, Julia L Keith, Mario Masellis, Istvan Bodi, Andrew King, Safa-Al Sarraj, Claire Troakes, Glenda M Halliday, John R Hodges, Jillian J Kril, John B Kwok, Olivier Piguet, Marla Gearing, Thomas Arzberger, Sigrun Roeber, Johannes Attems, Christopher M Morris, Alan J Thomas, Bret M. Evers, Charles L White, Naguib Mechawar, Anne A Sieben, Patrick P Cras, Bart B De Vil, Peter Paul P.P. De Deyn, Charles Duyckaerts, Isabelle Le Ber, Danielle Seihean, Sabrina Turbant-Leclere, Ian R MacKenzie, Catriona McLean, Matthew D Cykowski, John F Ervin, Shih-Hsiu J Wang, Caroline Graff, Inger Nennesmo, Rashed M Nagra, James Riehl, Gabor G Kovacs, Giorgio Giaccone, Benedetta Nacmias, Manuela Neumann, Lee-Cyn Ang, Elizabeth C Finger, Cornelis Blauwendraat, Mike A Nalls, Andrew B Singleton, Dan Vitale, Cristina Cunha, Agostinho Carvalho, Zbigniew K Wszolek, Huw R Morris, Rosa Rademakers, John A Hardy, Dennis W Dickson, Jonathan D Rohrer, Owen A Ross
Publikováno v:
medRxiv
BackgroundPick’s disease (PiD) is a rare and predominantly sporadic form of frontotemporal dementia that is classified as a primary tauopathy. PiD is pathologically defined by argyrophilic inclusion Pick bodies and ballooned neurons in the frontal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eb436da4c7362a38f76655e19fddf0a
https://europepmc.org/articles/PMC10168402/
https://europepmc.org/articles/PMC10168402/
Autor:
Artur F. Schumacher-Schuh, Andrei Bieger, Olaitan Okunoye, Kin Mok, Shen-Yang Lim, Soraya Bardien, Azlina Ahmad Annuar, Bruno Lopes-Santos, Matheus Zschornack Strelow, Mohamed Salama, Shilpa C Rao, Yared Zenebe Zewde, Saiesha Dindayal, Jihan Azar, LK Prashanth, Roopa Rajan, Alastair J Noyce, Njideka Okubadejo, Mie Rizig, Suzanne Lesage, Ignacio Mata
Human genetics research lacks diversity; over 80% of genome-wide association studies (GWAS) have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can cr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::126215e2995f1d3498616508fdeb180c
https://doi.org/10.1101/2021.12.07.21266995
https://doi.org/10.1101/2021.12.07.21266995
Autor:
David Francis, Yves Sznajer, Lieve Vanwalleghem, Jennifer Kussmann, David A. Bateman, Gael E. Phillips, Scott A. Anderson, Elizabeth K. Fiorino, Przemyslaw Szafranski, Kamilla Schlade-Bartusiak, Neil J. Sebire, Pablo Lapunzina, Maya Chopra, Urvashi Surti, Isabelle Maystadt, Oliver Quarrell, Partha Sen, Jill Slamon, Avinash V. Dharmadhikari, Philippe Moerman, Liesbeth Spruijt, Dick Tibboel, Susan Arbuckle, Glenda Hendson, Jennifer Schuette, Nicole de Leeuw, Melissa Lees, Namasivayam Ambalavanan, Annelies de Klein, Svetlana A. Yatsenko, Joel Reiter, Joseph T. Shieh, Sandra Janssens, Gregory Peters, Jessica Sebastian, David R. Kelly, Eitan Kerem, Janet Lioy, Martina Owens, Gary Tsz Kin Mok, Carlos A. Bacino, Amy S. Lay, Shalini N. Jhangiani, Suneeta Madan-Khetarpal, Björn Menten, Elizabeth Roeder, Kadir C. Akdemir, Denise A. Hayes, Laurie A. Steiner, Taryn C. Rosenthal, Richard Sayers, Fernando Santos-Simarro, Ashley Wilson, Joyce E. Fox, Yoyo W. Y. Chu, Richard Fisher, Rebecca O. Littlejohn, Daynna J. Wolff, Wai Lap Wong, Timothy Thiruchelvam, Kristin Scheible, Zoe Mead, Eileen McKay, M. Anwar Iqbal, Erwin Brosens, Melinda H. Markham, Julián Nevado, Anne Loccufier, Rosanna G. Abellar, Tomasz Gambin, Charles Shaw-Smith, Alison Yeung, Pawel Stankiewicz, Nihal Godiwala, Elfride De Baere, Ilse Feenstra, Diane J. Payton, Girvan Malcolm, María Palomares, Morris Edelman, Claire Langston, Thomas S. DeNapoli, Margaret L. McKinnon, Carol L. Wagner, Brian H.Y. Chung, James R. Lupski, Dawn English, Alison Male, Edwina J. Popek, Frances Elmslie, Jasneek Chawla, Sara Jane Hamilton, Jason Pinner
Publikováno v:
Human Genetics, 135, 5, pp. 569-86
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Genetics, 135(5), 569-586. Springer-Verlag
Human Genetics, 135, 569-86
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Contains fulltext : 168023.pdf (Publisher’s version ) (Closed access) Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy
Autor:
Gary Tsz Kin Mok, Gordon K.C. Leung, Mohammed Uddin, Christopher C.Y. Mak, Annie Ting Gee Chiu, Virginia Wong, Cheuk Wing Fung, Christian R. Marshall, Kin Wai So, Brian H.Y. Chung, Mary Hoi Yin Tang, Annisa Shui Lam Mak, So Lun Lee, WF Tang, Yoyo W. Y. Chu, Stephen W. Scherer, Victoria Qinchen Tao, Elizabeth Tak-Kwong Lau Yim, Kelvin Y.K. Chan, Anita Sik Yau Kan
Publikováno v:
Molecular Autism
Molecular Autism, Vol 8, Iss 1, Pp 1-12 (2017)
Molecular Autism, Vol 8, Iss 1, Pp 1-12 (2017)
Background Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy numbe
Summary Report of the 5th Joint Kuroshio Symposium: Adaptation to Climate and Socio-economic Changes
Publikováno v:
黒潮圏科学 = Kuroshio Science. 6(1):6-16
Autor:
Brian H.Y. Chung, Chun Bong Chow, Winnie Ka Yan Mok, Yoyo W. Y. Chu, Patrick Ip, Gary Tsz Kin Mok, Frederick K. Ho, Wilfred Hing Sang Wong
Publikováno v:
Health and Quality of Life Outcomes
Objectives The objectives of the study were (1) to validate the Chinese version of Health Utilities Index (HUI-Ch); (2) to examine the Health-related Quality of Life (HRQoL) of Chinese subjects with Down syndrome (DS); and (3) to study the impact of
Autor:
Colin Mahoney, Jon Beck, Jonathan Rohrer, Tammaryn Lashley, Kin Mok, Tim Shakespeare, Tom Yeatman, Elizabeth Warrington, Jonathan Schott, Nick Fox, Martin Rossor, John Hardy, John Collinge, Tamas Revez, Simon Mead, Jason Warren
Publikováno v:
Alzheimer's & Dementia. 8