E-LIB Suche - Ergebnisse für: Strom, Samuel

1

P368: Novel mutation in ZIC3 in a Peruvian family with vari..:

Chávez-Pasco, Giulliana ; Bazalar-Montoya, Jeny ; Suarez, Cecilia Bonilla...
Genetics in Medicine Open. 2 (2024) - p. 101262 , 2024

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

2

P636: Lp(a) genetic risk screening using genome sequencing:

Strom, Samuel ; Amendola, Laura ; Chawla, Aditi...
Genetics in Medicine Open. 2 (2024) - p. 101542 , 2024

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

3

P507: Implementation of automated pharmacogenomics reportin..:

Malhotra, Alka ; Hejja, Rueben ; Avecilla, James...
Genetics in Medicine Open. 1 (2023) 1 - p. 100554 , 2023

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

4

P420: Development of a comprehensive cardiovascular disease..:

Amendola, Laura ; Coffey, Alison ; Strom, Samuel...
Genetics in Medicine Open. 1 (2023) 1 - p. 100467 , 2023

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

5

P565: Optimized whole genome screening: The impact of varia..:

Sund, Kristen ; Strom, Samuel ; Fujita, Pauline...
Genetics in Medicine Open. 1 (2023) 1 - p. 100612 , 2023

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

6

Genetic Etiologies for Chronic Kidney Disease Revealed thro..:

Bleyer, Anthony J. ; Westemeyer, Maggie ; Xie, Jing...
American Journal of Nephrology. 53 (2022) 4 - p. 297-306 , 2022

Link: https://doi.org/10.1159/..

7

Early experience with a broad NGS-based approach to pediatr..:

Brossart, Anna Katya ; Beretich, Lauren ; Jiorle, Beth...
Molecular Genetics and Metabolism. 132 (2021) - p. S248-S249 , 2021

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

8

Defining the genetic etiology of chronic kidney disease in ..:

Raible, Darbey ; Westemeyer, Maggie ; Hendricks, Emily...
Molecular Genetics and Metabolism. 132 (2021) - p. S250 , 2021

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

9

Utilization of renal NGS panel to uncover dual diagnoses: "..:

Clark, Dinah ; Raible, Darbey ; Pitman, Tessa...
Molecular Genetics and Metabolism. 132 (2021) - p. S248 , 2021

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

10

Prenatal presentation and diagnosis ofBaraitser‐Wintersyndr..:

Zhang, Kermit ; Cox, Eleina ; Strom, Samuel...
American Journal of Medical Genetics Part A. 182 (2020) 9 - p. 2124-2128 , 2020

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

11

Exome Sequencing Improves Clinical Diagnosis of Sporadic or..:

Fogel, Brent ; Lee, Hane ; Deignan, Joshua...
Neurology. 84 (2015) 14_supplement - p. , 2015

Link: https://doi.org/10.1212/..

12

Parkinson's disease variant detection and disclosure: PD GE..:

Cook, Lola ; Verbrugge, Jennifer ; Schwantes-An, Tae-Hwi...
Brain. 147 (2024) 8 - p. 2668-2679 , 2024

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

13

Next‐generation sequencing and analysis of consecutive pati..:

Steinle, Jacob ; Hossain, Waheeda A. ; Veatch, Olivia J...
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 3016-3023 , 2022

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

14

Assessing Variant Causality and Severity Using Retinal Pigm..:

Matynia, Anna ; Wang, Jun ; Kim, Sangbae...
Translational Vision Science & Technology. 11 (2022) 3 - p. 33 , 2022

Link: https://doi.org/10.1167/..

15

Somatic non-cancerous overgrowth syndrome of obscure molecu..:

Garneau, Alexandre P. ; Haydock, Ludwig ; Tremblay, Laurence E....
Journal of Molecular Medicine. 100 (2022) 7 - p. 1087-1090 , 2022

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