E-LIB Suche - Ergebnisse für: del Gaudio, Daniela

1

Expedited evaluation of hereditary hematopoietic malignanci..:

Roloff, Gregory W. ; Kosuri, Satyajit ; Nawas, Mariam T....
Haematologica. , 2024

Link: https://doi.org/10.3324/..

2

The challenges and opportunities of offering and integratin..:

Deignan, Joshua L. ; Aggarwal, Vimla ; Bale, Allen E....
Genetics in Medicine Open. , 2024

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

3

The landscape of reported VUS in multi-gene panel and genom..:

Rehm, Heidi L. ; Alaimo, Joseph T. ; Aradhya, Swaroop...
Genetics in Medicine. 25 (2023) 12 - p. 100947 , 2023

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

4

A novel telomere biology disease‐associated gastritis ident..:

Setia, Namrata ; del Gaudio, Daniela ; Kandikatla, Priscilla...
The Journal of Pathology: Clinical Research. 10 (2023) 1 - p. , 2023

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

5

Exome sequencing identifies PD‐L2 as a potential predisposi..:

Shao, Jianming ; Gao, Lei ; Leung, Marco L....
Hematological Oncology. 40 (2022) 3 - p. 475-478 , 2022

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

6

Feasibility and limitations of cultured skin fibroblasts fo..:

DeRoin, Lia ; Cavalcante de Andrade Silva, Marcela ; Petras, Kristin...
Human Mutation. 43 (2022) 7 - p. 950-962 , 2022

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

7

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic ..:

Salguero, Maria V ; Chan, Karen ; Greeley, Siri Atma W...
Journal of the Endocrine Society. 6 (2022) 4 - p. , 2022

Link: https://doi.org/10.1210/..

8

Germline variants drive myelodysplastic syndrome in young a..:

Feurstein, Simone ; Churpek, Jane E. ; Walsh, Tom...
Leukemia. 35 (2021) 8 - p. 2439-2444 , 2021

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

9

Novel compound heterozygous LRBA deletions in a 6-month-old..:

Sanyoura, May ; Lundgrin, Erika L. ; Subramanian, Hari Prasanna...
Diabetes Research and Clinical Practice. 175 (2021) - p. 108798 , 2021

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

10

Adapting ACMG/AMP sequence variant classification guideline..:

Brandt, Tracy ; Sack, Laura M. ; Arjona, Dolores...
Genetics in Medicine. 22 (2020) 2 - p. 336-344 , 2020

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

11

Variants in the SK2 channel gene (KCNN2) lead to dominant n..:

Mochel, Fanny ; Rastetter, Agnès ; Ceulemans, Berten...
Brain. 143 (2020) 12 - p. 3564-3573 , 2020

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

12

Further delineation of a recognizable type of syndromic sho..:

Gileta, Alexander F. ; Helgeson, Maria L. ; Leonard, Jacqueline M. M....
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 889-893 , 2020

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

13

CFTR variant testing: a technical standard of the American ..:

Deignan, Joshua L. ; Astbury, Caroline ; Cutting, Garry R....
Genetics in Medicine. 22 (2020) 8 - p. 1288-1295 , 2020

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

14

Telomere biology disorder prevalence and phenotypes in adul..:

Feurstein, Simone ; Adegunsoye, Ayodeji ; Mojsilovic, Danijela...
Blood Advances. 4 (2020) 19 - p. 4873-4886 , 2020

Link: https://doi.org/10.1182/..

15

Correction: Adapting ACMG/AMP sequence variant classificati..:

Brandt, Tracy ; Sack, Laura M. ; Arjona, Dolores...
Genetics in Medicine. 22 (2020) 3 - p. 670-671 , 2020

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