149 related articles for article (PubMed ID: 38383979)
1. Rare genetic diseases in India: Steps toward a nationwide mission program.
Kar A; P S; Dalal A
J Biosci; 2024; 49():. PubMed ID: 38383979
[TBL] [Abstract][Full Text] [Related]
2. Genomics of rare genetic diseases-experiences from India.
; Sivasubbu S; Scaria V
Hum Genomics; 2019 Sep; 14(1):52. PubMed ID: 31554517
[TBL] [Abstract][Full Text] [Related]
3. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
Salvatore M; Polizzi A; De Stefano MC; Floridia G; Baldovino S; Roccatello D; Sciascia S; Menegatti E; Remuzzi G; Daina E; Iatropoulos P; Bembi B; Da Riol RM; Ferlini A; Neri M; Novelli G; Sangiuolo F; Brancati F; Taruscio D
Ital J Pediatr; 2020 Sep; 46(1):130. PubMed ID: 32928283
[TBL] [Abstract][Full Text] [Related]
4. Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD).
Adachi T; Imanishi N; Ogawa Y; Furusawa Y; Izumida Y; Izumi Y; Suematsu M
Orphanet J Rare Dis; 2018 Nov; 13(1):208. PubMed ID: 30458817
[TBL] [Abstract][Full Text] [Related]
5. A survey of awareness of diagnosis and treatment of rare diseases among healthcare professionals and researchers in India.
Vashishta L; Bapat P; Bhattacharya Y; Choudhury MC; Chirmule N; D'Costa S; Jindani S; Rao M; Sheth S
J Biosci; 2023; 48():. PubMed ID: 37795705
[TBL] [Abstract][Full Text] [Related]
6. Ophthalmic registries for rare eye diseases.
Sharma M; Jain N; Singh V; Singla S; Aftab I
Indian J Ophthalmol; 2022 Jul; 70(7):2225-2230. PubMed ID: 35791100
[TBL] [Abstract][Full Text] [Related]
7. The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.
Kim SY; Lee S; Woo H; Han J; Ko YJ; Shim Y; Park S; Jang SS; Lim BC; Ko JM; Kim KJ; Cho A; Kim H; Hwang H; Choi JE; Kim MJ; Moon J; Seong MW; Park SS; Choi SA; Lee JE; Kwon YS; Sohn YB; Kim JS; Kim WS; Lee YJ; Kwon S; Kim YO; Kook H; Cho YG; Cheon CK; Kang KS; Song MR; Kim YJ; Cha HJ; Choi HJ; Kee Y; Park SG; Baek ST; Choi M; Ryu DS; Chae JH
Orphanet J Rare Dis; 2022 Oct; 17(1):372. PubMed ID: 36209187
[TBL] [Abstract][Full Text] [Related]
8. Indian Undiagnosed Diseases Program (I-UDP) - The Unmet Need.
Puri RD; Dalal A; Moirangthem A
Indian Pediatr; 2022 Mar; 59(3):198-200. PubMed ID: 35105821
[TBL] [Abstract][Full Text] [Related]
9. Rare paediatric disorders in Indian healthcare settings with focus on neuromuscular disorders: Diagnostic and management challenges.
Mahesan A; Kamila G; Gulati S
J Biosci; 2024; 49():. PubMed ID: 38200670
[TBL] [Abstract][Full Text] [Related]
10. Lessons from the Rare Diseases Registry and Analytics Platform framework for development of a national rare diseases registry for India.
Chaube P; Lankapalli A; Choudhury MC
J Biosci; 2024; 49():. PubMed ID: 38383976
[TBL] [Abstract][Full Text] [Related]
11. Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.
Dong Y; Wang J; Zhu S; Zheng H; Wang C; Zhao P
Pediatr Res; 2021 Jan; 89(1):238-245. PubMed ID: 32289814
[TBL] [Abstract][Full Text] [Related]
12. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans N; Hemelsoet D; Terryn W; Steyaert S; Van Coster R; Coucke PJ; Steyaert W; Callewaert B; Bogaert E; Verloo P; Vanlander AV; Debackere E; Ghijsels J; LeBlanc P; Verdin H; Naesens L; Haerynck F; Callens S; Dermaut B; Poppe B;
Orphanet J Rare Dis; 2022 May; 17(1):210. PubMed ID: 35606766
[TBL] [Abstract][Full Text] [Related]
13. Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
Takahashi Y; Date H; Oi H; Adachi T; Imanishi N; Kimura E; Takizawa H; Kosugi S; Matsumoto N; Kosaki K; Matsubara Y; ; Mizusawa H
J Hum Genet; 2022 Sep; 67(9):505-513. PubMed ID: 35318459
[TBL] [Abstract][Full Text] [Related]
14. [Initiative on Rare and Undiagnosed Diseases: Achievements and Future Prospects].
Suzuki H
Brain Nerve; 2023 Sep; 75(9):1065-1070. PubMed ID: 37691248
[TBL] [Abstract][Full Text] [Related]
15. Childhood rare lung disease in the 21st century: "-omics" technology advances accelerating discovery.
Vece TJ; Wambach JA; Hagood JS
Pediatr Pulmonol; 2020 Jul; 55(7):1828-1837. PubMed ID: 32533908
[TBL] [Abstract][Full Text] [Related]
16. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Marwaha S; Knowles JW; Ashley EA
Genome Med; 2022 Feb; 14(1):23. PubMed ID: 35220969
[TBL] [Abstract][Full Text] [Related]
17. Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases.
Pijuan J; Rodríguez-Sanz M; Natera-de Benito D; Ortez C; Altimir A; Osuna-López M; Roura M; Ugalde M; Van de Vondel L; Reina-Castillón J; Fons C; Benítez R; Nascimento A; Hoenicka J; Palau F
J Mol Diagn; 2021 Jan; 23(1):71-90. PubMed ID: 33223419
[TBL] [Abstract][Full Text] [Related]
18. New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley T; Lemire G; Kernohan KD; Howley HE; Adams DR; Boycott KM
Annu Rev Genomics Hum Genet; 2020 Aug; 21():351-372. PubMed ID: 32283948
[TBL] [Abstract][Full Text] [Related]
19. Intellectual Disability & Rare Disorders: A Diagnostic Challenge.
Kvarnung M; Nordgren A
Adv Exp Med Biol; 2017; 1031():39-54. PubMed ID: 29214565
[TBL] [Abstract][Full Text] [Related]
20. Japan's initiative on rare and undiagnosed diseases (IRUD): towards an end to the diagnostic odyssey.
Adachi T; Kawamura K; Furusawa Y; Nishizaki Y; Imanishi N; Umehara S; Izumi K; Suematsu M
Eur J Hum Genet; 2017 Sep; 25(9):1025-1028. PubMed ID: 28794428
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
