E-LIB Suche - Ergebnisse für: Custódio, Sónia

1

Detection of elusive DNA copy-number variations in heredita..:

Quinodoz, Mathieu ; Kaminska, Karolina ; Cancellieri, Francesca...
The American Journal of Human Genetics. 111 (2024) 4 - p. 701-713 , 2024

Link: https://doi.org/10.1016/..

2

The first genetic landscape of inherited retinal dystrophie..:

Peter, Virginie G ; Kaminska, Karolina ; Santos, Cristina...
PNAS Nexus. 2 (2023) 3 - p. , 2023

Link: https://doi.org/10.1093/..

3

Upper limb phocomelia: A prenatal case of thrombocytopenia-..:

Travessa, André M. ; Dias, Patrícia ; Santos, Antónia...
Taiwanese Journal of Obstetrics and Gynecology. 59 (2020) 2 - p. 318-322 , 2020

Link: https://doi.org/10.1016/..

4

Genetics of personalized medicine: cancer and rare diseases:

Alves, Inês Teles Siefers ; Condinho, Manuel ; Custódio, Sónia...
Cellular Oncology. 41 (2018) 3 - p. 335-341 , 2018

Link: https://doi.org/10.1007/..

5

Overproduction, crystallization and preliminary X-ray chara..:

de Sanctis, Daniele ; Bento, Isabel ; Inácio, José Manuel...
Acta Crystallographica Section F Structural Biology and Crystallization Communications. 64 (2008) 7 - p. 636-638 , 2008

Link: https://doi.org/10.1107/..

6

The first genetic landscape of inherited retinal dystrophie..:

Peter, Virginie G ; Kaminska, Karolina ; Santos, Cristina...
2752-6542. , 2023

Link: http://hdl.handle.net/10..

7

The first genetic landscape of inherited retinal dystrophie..:

Peter, Virginie G ; Kaminska, Karolina ; Santos, Cristina...
https://boris.unibe.ch/180004/. , 2023

Link: https://boris.unibe.ch/1..

8

The clinical significance of 15q11.2 BP1-BP2 duplications: ..:

Serafim, Silvia ; Marques, Bárbara ; Pedro, Sónia...
https://www.eshg.org/fileadmin/www.eshg.org/conferences/2016/downloads/ESHG2016_Abstracts_final.pdf. , 2016

Link: http://hdl.handle.net/10..

9

Overproduction, crystallization and preliminary X-ray char..:

de Sanctis, Daniele ; Bento, Isabel ; Inácio, José Manuel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443960. , 2008

Link: http://www.ncbi.nlm.nih...

10

Overproduction, crystallization and preliminary X-ray chara..:

Sá-Nogueira, Isabel de ; Sanctis, Daniele de ; Bento, Isabel...
de Sanctis D, Bento I, Inácio JM, Custódio S, de Sá-Nogueira I, and Carrondo MA (2008). Overproduction, crystallization and preliminary X-ray characterization of Abn2, an endo-1,5-alpha-arabinanase from Bacillus subtilis. Acta Crystallogr Sect F Struct Biol Cryst Commun. 64(Pt 7):636-638.. , 2008

Link: http://hdl.handle.net/10..

11

Upper limb phocomelia: A prenatal case of thrombocytopenia-..:

André M. Travessa ; Patrícia Dias ; Antónia Santos...
http://www.sciencedirect.com/science/article/pii/S1028455920300243. , 2020

Link: https://doi.org/10.1016/..

12

Comunicação numa editora universitária: relatório de estági..:

Gabriel, Sónia Custódio
http://hdl.handle.net/10773/30941. , 2021

Link: http://hdl.handle.net/10..

13

Advancements in dementia research, diagnostics, and care in..:

Sosa, Ana Luisa ; Brucki, Sonia MD ; Crivelli, Lucia...
Alzheimer's & Dementia. 20 (2024) 7 - p. 5009-5026 , 2024

Link: https://doi.org/10.1002/..

14

Environmental isotope concepts of precipitation and surface..:

Valdivielso, Sonia ; Vázquez-Suñé, Enric ; Custodio, Emilio
Boletín Geológico y Minero. 132 (2024) 1-2 - p. 147-156 , 2024

Link: https://doi.org/10.21701..

15

Seasonal and isotopic precipitation patterns in the semi-ar..:

Valdivielso, Sonia ; Murray, Jesica ; Custodio, Emilio...
Science of The Total Environment. 925 (2024) - p. 171750 , 2024

Link: https://doi.org/10.1016/..