Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Dimitri James Stavropoulos"'
Autor:
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md. Atikur Rahaman, K. M. Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T. Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D. O’Rielly, Bakhrom K. Berdeiv, A. H. M. Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W. Scherer, Mohammed Uddin
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
Abstract Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with
Externí odkaz:
https://doaj.org/article/be7577baefe0449d9e32b34e4247a672
Autor:
Sofia Melliou, Kevin T. Sangster, Jennifer Kao, Mehdi Zarrei, K.H. Brian Lam, Jennifer Howe, Michail-Dimitrios Papaioannou, Queenie P.L. Tsang, Okty Abbasi Borhani, Rifat Shahriar Sajid, Céline Bonnet, Bruno Leheup, Patrick Shannon, Stephen W. Scherer, Dimitri James Stavropoulos, Ugljesa Djuric, Phedias Diamandis
Publikováno v:
Cell reports. 39(8)
Cerebral organoids have emerged as robust models for neurodevelopmental and pathological processes, as well as a powerful discovery platform for less-characterized neurobiological programs. Toward this prospect, we leverage mass-spectrometry-based pr
Autor:
Nadirah Damseh, Lucie Dupuis, Constance O'Connor, Rachel Youjin Oh, Yi Wen Wang, Dimitri James Stavropoulos, Sarah B. Schwartz, Roberto Mendoza‐Londono
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(5)
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by hyperextensible skin, hypermobile joints, easy bruisability, and fragility of the connective tissues. The diagnosis is based on clinical assessment
Autor:
Sofia Melliou, Kevin T. Sangster, Jennifer Kao, Mehdi Zarrei, Jennifer Howe, Michail Dimitrios Papaioannou, Queenie P.L. Tsang, Okty Abbasi Borhani, Rifat Shahriar Sajid, Céline Bonnet, Bruno Leheup, Patrick Shannon, Stephen W. Scherer, Dimitri James Stavropoulos, Ugljesa Djuric, Phedias Diamandis
Publikováno v:
SSRN Electronic Journal.
Autor:
Rebekah, Jobling, Dimitri James, Stavropoulos, Christian R, Marshall, Cheryl, Cytrynbaum, Michelle M, Axford, Vanessa, Londero, Sharon, Moalem, Jennifer, Orr, Francis, Rossignol, Fatima Daniela, Lopes, Julie, Gauthier, Nathalie, Alos, Rosemarie, Rupps, Margaret, McKinnon, Shelin, Adam, Malgorzata J M, Nowaczyk, Susan, Walker, Stephen W, Scherer, Christina, Nassif, Fadi F, Hamdan, Cheri L, Deal, Jean-François, Soucy, Rosanna, Weksberg, Patrick, Macleod, Jacques L, Michaud, David, Chitayat
Publikováno v:
Journal of medical genetics. 55(5)
Chitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not