E-LIB Suche - Ergebnisse für: Cassini, Thomas A.

1

Comparison of phenomic profiles in the All of Us Research P..:

Zeng, Chenjie ; Schlueter, David J ; Tran, Tam C...
Journal of the American Medical Informatics Association. 31 (2024) 4 - p. 846-854 , 2024

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

2

P848: Novel structural variant in PDGFB-associated with ect..:

D'Onofrio, David ; Cohen, Andrea ; Gillis, Meredith...
Genetics in Medicine Open. 2 (2024) - p. 101759 , 2024

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

3

A test of automated use of electronic health records to aid..:

Cassini, Thomas ; Bastarache, Lisa ; Zeng, Chenjie...
Genetics in Medicine. 25 (2023) 12 - p. 100966 , 2023

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

4

MYH2-associated myopathy caused by a novel splice-site vari..:

Cassini, Thomas A. ; Malicdan, May Christine V. ; Macnamara, Ellen F....
Neuromuscular Disorders. 33 (2023) 3 - p. 257-262 , 2023

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

5

Diagnosis and discovery: Insights from the NIH Undiagnosed ..:

Montano, Carolina ; Cassini, Thomas ; Ziegler, Shira G....
Journal of Inherited Metabolic Disease. 45 (2022) 5 - p. 907-918 , 2022

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

6

Exploring US internal medicine resident career preferences:..:

Roberts, John K. ; Schub, Micah ; Singhal, Surbhi...
Advances in Health Sciences Education. 28 (2022) 3 - p. 669-686 , 2022

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

7

Personalized structural biology reveals the molecular mecha..:

Mukherjee, Souhrid ; Cassini, Thomas A. ; Hu, Ningning...
Human Genetics and Genomics Advances. 3 (2022) 4 - p. 100131 , 2022

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

8

Whole genome sequencing reveals novel IGHMBP2 variant leadi..:

Cassini, Thomas A. ; Duncan, Laura ; Rives, Lynette C....
Molecular Genetics & Genomic Medicine. 7 (2019) 6 - p. , 2019

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

9

Phenotypic heterogeneity of ZMPSTE24 deficiency:

Cassini, Thomas A. ; Robertson, Amy K. ; Bican, Anna G....
American Journal of Medical Genetics Part A. 176 (2018) 5 - p. 1175-1179 , 2018

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

10

Genomic Diagnoses for Ectopic Intracerebral Calcifications:

Xiao, Changrui ; Cassini, Thomas ; Benavides, Daniel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10399077/. , 2023

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

11

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P ; Grimsrud, Kristin ; Lanoue, Louise...
qt9kg2s7vk. , 2022

Link: https://escholarship.org..

12

Endocannabinoid dysfunction in neurological disease: neuro-..:

Bainbridge, Matthew N ; Mazumder, Aloran ; Ogasawara, Daisuke...
qt1tp7967m. , 2022

Link: https://escholarship.org..

13

Personalized structural biology reveals the molecular mecha..:

Mukherjee, Souhrid ; Cassini, Thomas A ; Hu, Ningning...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399384/. , 2022

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

14

Whole genome sequencing reveals novel IGHMBP2 variant leadi..:

Cassini, Thomas A ; Duncan, Laura ; Rives, Lynette C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565564/. , 2019

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

15

Whole genome sequencing reveals novel IGHMBP2 variant leadi..:

Cassini, Thomas A ; Duncan, Laura ; Rives, Lynette C...
https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.676. , 2019

Link: http://hdl.handle.net/18..