E-LIB Suche - Ergebnisse für: Lumaka, Aime

1

The impact of clinical genome sequencing in a global popula..:

Thorpe, Erin ; Williams, Taylor ; Shaw, Chad...
The American Journal of Human Genetics. , 2024

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

2

Factors associated with acute kidney injury (AKI) and morta..:

Nlandu, Yannick ; Makulo, Jean-Robert ; Essig, Marie...
Renal Failure. 45 (2023) 2 - p. , 2023

Link: https://doi.org/10.1080/..

3

O38: The impact of whole genome sequencing in a diverse glo..:

Taft, Ryan ; Thorpe, Erin ; Belmont, John...
Genetics in Medicine Open. 1 (2023) 1 - p. 100464 , 2023

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

My Bantu vision of genomic medicine in Africa:

Lumaka, Aimé
Nature Genetics. 55 (2023) 12 - p. 2013-2015 , 2023

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

6

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/..

7

Rapid Whole Genome Sequencing Diagnoses and Guides Treatmen..:

Lumaka, Aimé ; Fasquelle, Corinne ; Debray, Francois-Guillaume...
International Journal of Molecular Sciences. 24 (2023) 4 - p. 4003 , 2023

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

8

PMS2 Pathogenic Variant in Lynch Syndrome-Associated Colore..:

Poaty, Henriette ; Bouya, Lauria Batamba ; Lumaka, Aimé..
Global Medical Genetics. 10 (2023) 1 - p. 001-005 , 2023

Link: https://doi.org/10.1055/..

9

P572: Detecting short tandem repeat expansions: Three-year ..:

Thomas, Brittany ; Kesari, Akanchha ; Lumaka, Aime...
Genetics in Medicine Open. 1 (2023) 1 - p. 100619 , 2023

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

10

Clinical and biological profile of Sickle Cell Anemia child..:

Mbayabo, Gloire ; Ngole, Mamy ; Lumbala, Paul Kabuyi...
Hematology. 28 (2023) 1 - p. , 2023

Link: https://doi.org/10.1080/..

11

Usefulness of automated image analysis for recognition of t..:

Lubala, Toni Kasole ; Kayembe-Kitenge, Tony ; Mubungu, Gerrye...
European Journal of Medical Genetics. 66 (2023) 9 - p. 104819 , 2023

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

12

Clinical and laboratory characterization of adult sickle ce..:

Lumbala, Paul Kabuyi ; Mbayabo, Gloire ; Ngole, Mamy Nzita...
PLOS ONE. 17 (2022) 12 - p. e0278478 , 2022

Link: https://doi.org/10.1371/..

13

Objective evaluation of facial features in Congolese newbor..:

Mubungu, Gerrye ; Roelants, Mathieu ; Lumaka, Aimé...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3063-3070 , 2022

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

14

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/..

15

Novel Loss of Function Variant in BCKDK Causes a Treatable ..:

Boemer, François ; Josse, Claire ; Luis, Géraldine...
International Journal of Molecular Sciences. 23 (2022) 4 - p. 2253 , 2022

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