Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.

Autor: Giugliani R; Department of Genetics UFRGS, Medical Genetics Service HCPA, DASA and Casa dos Raros, Porto Alegre, Brazil., Castillo Taucher S; Clinical Geneticist, Hospital Clínico Universidad de Chile, Clínica Alemana de Santiago, Santiago, Chile., Hafez S; The NOA Project, Panama City, Panama., Oliveira JB; Laboratório de Genética Molecular, Hospital Israelita Albert Einstein, Sao Paulo, Brazil., Rico-Restrepo M; Americas Health Foundation, Bogota, Colombia., Rozenfeld P; Instituto de Estudios Inmunológicos y Fisiopatológicos (IIFP), UNLP, CONICET, asociado CIC PBA, Facultad de Ciencias Exactas, Departamento de Ciencias Biológicas, La Plata, Argentina., Zarante I; Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia., Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, México.

Publikováno v: Frontiers in genetics [Front Genet] 2022 Dec 08; Vol. 13, pp. 1053559. Date of Electronic Publication: 2022 Dec 08 (Print Publication: 2022).

Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype.

Autor: Martin Merlez F; Clinical Hospital, University of Chile, Santiago, Chile., González Zalazar M; Clinical Hospital, University of Chile, Santiago, Chile., Castillo Taucher S; Division of Genetics, Clinical Hospital, University of Chile, Santiago, Chile.; Clinical Laboratory Division Cytogenetics, Santiago, Chile.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2021 Dec 24; Vol. 13 (2), pp. 149-153. Date of Electronic Publication: 2021 Dec 24 (Print Publication: 2024).

Synthetic and Natural Inhibitors of Mortalin for Cancer Therapy.

Autor: Kaushal, Shruti¹ (AUTHOR) shrutii@iiitd.ac.in, Gupta, Samriddhi¹ (AUTHOR) samriddhig@iiitd.ac.in, Shefrin, Seyad² (AUTHOR) bez188440@dbeb.iitd.ac.in, Vora, Dhvani Sandip¹ (AUTHOR) dhvani.vora@dbeb.iitd.ac.in, Kaul, Sunil C.³ (AUTHOR) s-kaul@aist.go.jp, Sundar, Durai^2,4 (AUTHOR) sundar@dbeb.iitd.ac.in, Wadhwa, Renu³ (AUTHOR) renu-wadhwa@aist.go.jp, Dhanjal, Jaspreet Kaur¹ (AUTHOR) renu-wadhwa@aist.go.jp

Publikováno v: Cancers. Oct2024, Vol. 16 Issue 20, p3470. 21p.

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

Autor: Wang, Chiuhui Mary¹ (AUTHOR) mary.wang@rarediseasesint.org, Whiting, Amy Heagle¹ (AUTHOR), Rath, Ana² (AUTHOR), Anido, Roberta³ (AUTHOR), Ardigò, Diego⁴ (AUTHOR), Baynam, Gareth⁵ (AUTHOR), Dawkins, Hugh⁶ (AUTHOR), Hamosh, Ada⁷ (AUTHOR), Le Cam, Yann⁸ (AUTHOR), Malherbe, Helen^9,10 (AUTHOR), Molster, Caron M.¹¹ (AUTHOR), Monaco, Lucia¹² (AUTHOR), Padilla, Carmencita D.¹³ (AUTHOR), Pariser, Anne R.¹² (AUTHOR), Robinson, Peter N.¹⁴ (AUTHOR), Rodwell, Charlotte² (AUTHOR), Schaefer, Franz¹⁵ (AUTHOR), Weber, Stefanie¹⁶ (AUTHOR), Macchia, Flaminia¹ (AUTHOR)

Publikováno v: Orphanet Journal of Rare Diseases. 9/11/2024, Vol. 19 Issue 1, p1-6. 6p.

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