E-LIB Suche - Ergebnisse für: Claudia Gonzaga-Jauregui, PhD

1

KCNJ11 Mutation in One Family is Associated with Adult-Onse..:

Emily Breidbart, MD ; Lauren Golden, MD ; Claudia Gonzaga-Jauregui, PhD...
http://www.sciencedirect.com/science/article/pii/S2376060520301565. , 2018

Link: https://doi.org/10.4158/..

2

NIPBL rearrangements in Cornelia de Lange syndrome: evidenc..:

Pehlivan, Davut ; Hullings, Melanie ; Carvalho, Claudia M.B....
Genetics in Medicine. 14 (2012) 3 - p. 313-322 , 2012

Link: https://doi.org/10.1038/..

3

The power of diversity!:

Cederroth, Helene ; Cellini, Barbara ; Gonzaga-Jauregui, Claudia...
Rare. 2 (2024) - p. 100024 , 2024

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

4

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
Frontiers in Public Health. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

Evinacumab in severe hypertriglyceridemia with or without l..:

Rosenson, Robert S. ; Gaudet, Daniel ; Ballantyne, Christie M....
Nature Medicine. 29 (2023) 3 - p. 729-737 , 2023

Link: https://doi.org/10.1038/..

6

Comprehensive Genetic Analysis of Druze Provides Insights i..:

Avnat, Eden ; Shapira, Guy ; Shoval, Shelly...
Genes. 14 (2023) 4 - p. 937 , 2023

Link: https://doi.org/10.3390/..

7

Undiagnosed diseases: Needs and opportunities in 20 countri..:

Taruscio, Domenica ; Salvatore, Marco ; Lumaka, Aimè...
Frontiers in Public Health. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

8

Opportunities and challenges for newborn screening and earl..:

Giugliani, Roberto ; Castillo Taucher, Silvia ; Hafez, Sylvia...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

9

Addressing underrepresentation in genomics research through..:

Lemke, Amy A. ; Esplin, Edward D. ; Goldenberg, Aaron J....
The American Journal of Human Genetics. 109 (2022) 9 - p. 1563-1571 , 2022

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

10

Clinical validity assessment of genes frequently tested on ..:

Riggs, Erin Rooney ; Bingaman, Taylor I. ; Barry, Carrie-Ann...
Genetics in Medicine. 24 (2022) 9 - p. 1899-1908 , 2022

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

11

Clinical characterization of familial hypercholesterolemia ..:

Williams, Katie B. ; Horst, Michael ; Young, Millie...
BMC Cardiovascular Disorders. 22 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

12

Addressing the challenges of polygenic scores in human gene..:

Novembre, John ; Stein, Catherine ; Asgari, Samira...
The American Journal of Human Genetics. 109 (2022) 12 - p. 2095-2100 , 2022

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

13

Editorial: Chromosome structural variants: Epidemiology, id..:

Dong, Zirui ; David, Dezso ; Gonzaga-Jauregui, Claudia..
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

14

Pathogenic variants in SLF2 and SMC5 cause segmented chromo..:

Grange, Laura J. ; Reynolds, John J. ; Ullah, Farid...
Nature Communications. 13 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

15

Correction to: Novel risk genes and mechanisms implicated b..:

Zhu, Na ; Pauciulo, Michael W. ; Welch, Carrie L....
Genome Medicine. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..