Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Thuy Linh Le"'
Autor:
Laura E Kuil, Katherine C MacKenzie, Clara S Tang, Jonathan D Windster, Thuy Linh Le, Anwarul Karim, Bianca M de Graaf, Robert van der Helm, Yolande van Bever, Cornelius E J Sloots, Conny Meeussen, Dick Tibboel, Annelies de Klein, René M H Wijnen, Jeanne Amiel, Stanislas Lyonnet, Maria-Mercè Garcia-Barcelo, Paul K H Tam, Maria M Alves, Alice S Brooks, Robert M W Hofstra, Erwin Brosens
Publikováno v:
PLoS Genetics, Vol 17, Iss 8, p e1009698 (2021)
Hirschsprung disease (HSCR) is a complex genetic disease characterized by absence of ganglia in the intestine. HSCR etiology can be explained by a unique combination of genetic alterations: rare coding variants, predisposing haplotypes and Copy Numbe
Externí odkaz:
https://doaj.org/article/1c07ad4d76c24f9488439c5f30f264c2
Autor:
Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Shaokun Li, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, E. J. Prijoles, Raymond J. Louie, Robert Roger Lebel, Thuy-Linh Le, Jeanne Amiel, Christopher T. Gordon, Kaan Boztug, Katta M. Girisha, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)
Abstract THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export complex (TREX) tetramer formation, which is composed of four six-subunit THO mono
Externí odkaz:
https://doaj.org/article/377fd67c893b4d0eba289bde1408f26e
Autor:
Laureillard, Didier, Nagot, Nicolas, Jarlais, Don Des, Feelemyer, Jonathan, Quillet, Catherine, Vallo, Roselyne, Moles, Jean-Pierre, Weiss, Laurence, Lemoine, Maud, Michel, Laurent, Khue, Pham Minh, Rapoud, Delphine, Binh, Nguyen Thanh, Hong, Tran Thi, Thanh Hang, Nguyen Thi, Hai, Phung Quang, Thom, Vu Thi, Duc, Cap Minh, Thuy Linh, Le Thi, Nhu Quynh, Bach Thi, Linh, Le Thuy, Thi hong, Nguyen, Thu Trang, Vu Thi, Vinh, Vu Hai, Thanh Huong, Nguyen Thi, Thia, Hoang Thi, Van Anh, Nguyen Thi, Sinh, Vu Thi, Hai Binh, Doan Thi, Van Luc, Nguyen, Thu Ha, Vu Thi, Nhung, Do Thi, Khoi, Bui Minh, Thien, Bui Thi, Vu Quang, La Thi, Toi, Le Huu, Luong, Hoang Thi, Thanh Phuong, Pham Thi, Lieu, Pham Thi, Thanh Mai, Pham Thi, Hoa, Trinh Thi, Thu Trang, Bui Thi, Thu Ha, Nguyen Thi, Xuyen, Nguyen Thi, Huong, Trinh Thi, Minh, Nguyen Thi, Thuy, Phung Thi, Thi Duyen, Tran, Que, Vu Thi, Dung, Nguyen Duc, Tuan, Nguyen Duc, Long, Nguyen Hoang, Hung, Nguyen Manh, Van Tu, Vu, Kien, Nguyen Thanh, Thu Hong, Pham Thi, Cuc, Truong Thi, Quan, Nguyen Minh, Lan, Nguyen Thi, Va, Nguyen Thi, Manh, Nguyen The, Van Cuong, Doan, Van Hoan, Pham, Kim Giang, Cao Thi, Hiep, Ha Quang, Ninh, Ngo Trong, Quan, Nguyen Anh, Bich Hop, Vu Thi, Thu, Nguyen Thi, Sau, Nguyen Thi, Van Tuan, Hoang, Nhan, Nguyen Huu, Tuan, Nguyen Quoc, Long, Le Tuan, Son, Vu Minh, Hoc, Tran Viet, Van Dinh, Nguyen, Hoang, Nguyen, Hung, Pham Thi, Binh, Trinh Thai, Hang, Le Thi, Quan, Hoang Dang, Thi Thanh, Nguyen, Loan, Le Thi, Cuong, La Cao, Van Ha, Tran, Van Thao, Tran, Truong, Nguyen Xuan, Hanh, Nguyen Duc, Loan, Nguyen Thi, Tung, Tran Lam, Lien, Tran Thi, Hai Oanh, Khuat Thi, Tuyet Thanh, Nham Thi, Thuy Linh, Bui Thi, Dien, Ngo Thi, Vickerman, Peter, Fraser, Hannah, Walker, Josephine, Trickey, Adam, Huong, Duong Thi, Thanh, Nham Thi Tuyet, Quynh, Bach Thi Nhu, Nguyen, Duc Quang, Lacombe, Karine, Des Jarlais, Don, Moles, Jean Pierre
Publikováno v:
In The Lancet Regional Health - Western Pacific August 2023 37
Autor:
Nhu, Quynh Bach Thi1 (AUTHOR) btnquynh@hpmu.edu.vn, Thuy, Linh Le Thi1 (AUTHOR) lethuylinh1189@gmail.com, Nguyen, Hong Thi1 (AUTHOR) nguyenhongshpt@gmail.com, Thanh, Binh Nguyen1 (AUTHOR) nguyenducbinh.yhp@gmail.com, Rapoud, Delphine2 (AUTHOR) delphine.rapoud@yahoo.fr, Quillet, Catherine2 (AUTHOR) catherine_quillet@yahoo.fr, Tran, Hong Thi1 (AUTHOR) tranthihong42@gmail.com, Vallo, Roselyne2 (AUTHOR) roselyne.vallo@umontpellier.fr, Tuyet, Thanh Nham Thi3 (AUTHOR) thanhnham@scdi.org.vn, Michel, Laurent4 (AUTHOR) laurent.michel@croix-rouge.fr, Weiss, Laurence5 (AUTHOR) laurence.weiss@aphp.fr, Perre, Philippe Vande2 (AUTHOR) p-van_de_perre@chu-montpellier.fr, Hai, Vinh Vu6 (AUTHOR) vinhvuhai@gmail.com, Nagot, Nicolas2 (AUTHOR) n-nagot@chu-montpellier.fr, Hai, Oanh Khuat Thi3 (AUTHOR) oanhkhuat@scdi.org.vn, Des Jarlais, Don7 (AUTHOR) don.desjarlais@nyu.edu, Duong, Huong Thi1 (AUTHOR) dthuong@hpmu.edu.vn, Minh, Khue Pham1 (AUTHOR) pmkhue@hpmu.edu.vn, Laureillard, Didier2,8 (AUTHOR) didier.laureillard@yahoo.fr, Molès, Jean-Pierre2 (AUTHOR) jean-pierre.moles@inserm.fr
Publikováno v:
Diagnostics (2075-4418). Nov2023, Vol. 13 Issue 22, p3456. 10p.
Publikováno v:
European Transport: International Journal of Transport Economics, Engineering & Law; Sep2024, Issue 99, p1-17, 17p
Publikováno v:
IEEE Access, Vol 8, Pp 14798-14808 (2020)
By providing a range of values rather than a point estimate, accurate interval forecasting is critical to the success of investment decisions in exchange rate markets. This work proposes a sliding-window metaheuristic optimization for interval-valued
Externí odkaz:
https://doaj.org/article/29a09f1af2604f5797b6880b5f91f825
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2023, 66 (6), pp.104746. ⟨10.1016/j.ejmg.2023.104746⟩
European Journal of Medical Genetics, 2023, 66 (6), pp.104746. ⟨10.1016/j.ejmg.2023.104746⟩
International audience; Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests it
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ec439b4d896c22f945bf305b105de53
https://hal-pasteur.archives-ouvertes.fr/pasteur-04145555/file/1-s2.0-S1769721223000526-main.pdf
https://hal-pasteur.archives-ouvertes.fr/pasteur-04145555/file/1-s2.0-S1769721223000526-main.pdf
Publikováno v:
PROCEEDINGS OF THE 1ST INTERNATIONAL CONFERENCE ON FRONTIER OF DIGITAL TECHNOLOGY TOWARDS A SUSTAINABLE SOCIETY.
Publikováno v:
Advances in Research on Water Resources and Environmental Systems ISBN: 9783031178078
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57d5f3ab4d99acd334093d83a0337f7b
https://doi.org/10.1007/978-3-031-17808-5_39
https://doi.org/10.1007/978-3-031-17808-5_39
Autor:
Elizabeth Werren, Geneva R. LaForce, Anshika Srivastava, Delia R. Perillo, Katherine Johnson, Safa Baris, Brandon Berger, Samantha L. Regan, Christian D. Pfennig, Sonja de Munnik, Rolph Pfundt, Malavika Hebbar, Raúl Jimenez-Heredia, Elif Karakoc-Aydiner, Ahmet Ozen, Jasmin Dmytrus, Ana Krolo, Ken Corning, EJ Prijoles, Raymond J. Louie, Robert R. Lebel, Thuy-Linh Le, Chris Gordon, Kaan Boztug, Katta M. Girish, Anju Shukla, Stephanie L. Bielas, Ashleigh E. Schaffer
THOC6 is the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 facilitates the formation of the Transcription Export complex (TREX) tetramer, composed of four THO monomers. The TREX tetramer supports mammalian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5ac8b71ebc7267a1981ce55785b49439
https://doi.org/10.1101/2022.09.06.506502
https://doi.org/10.1101/2022.09.06.506502