E-LIB Suche - Ergebnisse für: Dimmock, David

1

Evidence review and considerations for use of first line ge..:

Wigby, Kristen M. ; Brockman, Deanna ; Costain, Gregory...
npj Genomic Medicine. 9 (2024) 1 - p. , 2024

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

2

Multi-center implementation of rapid whole genome sequencin..:

Thompson, Lauren ; Larson, Austin ; Salz, Lisa...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

3

The evolution of the mitochondrial disease diagnostic odyss..:

Thompson, John L. P. ; Karaa, Amel ; Pham, Hung...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

4

Correction to: The evolution of the mitochondrial disease d..:

Thompson, John L. P. ; Karaa, Amel ; Pham, Hung...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

5

The Genomic landscape of short tandem repeats across multip..:

Vijayaraghavan, Prashanth ; Batalov, Sergey ; Ding, Yan...
PLOS ONE. 18 (2023) 1 - p. e0279430 , 2023

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

6

Neuropsychiatric Function Improvement in Pediatric Patients..:

Grant, Mitzie L. ; Jurecki, Elaina R. ; McCandless, Shawn E....
The Journal of Pediatrics. 260 (2023) - p. 113526 , 2023

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

7

Insights into the perinatal phenotype of Kabuki syndrome in..:

Wigby, Kristen ; Hammer, Monia ; Tokita, Mari...
American Journal of Medical Genetics Part A. 191 (2023) 4 - p. 930-940 , 2023

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

8

Assessing Diversity in Newborn Genomic Sequencing Research ..:

Cakici, Julie A. ; Dimmock, David ; Caylor, Sara...
Clinical Therapeutics. 45 (2023) 8 - p. 736-744 , 2023

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

9

Novel Approach to Improve the Identification of the Bleedin..:

Bruno, Leah ; Lenberg, Jerica ; Le, Dzung...
The Journal of Pediatrics. 257 (2023) - p. 113323 , 2023

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

10

Retrospective identification of prenatal fetal anomalies as..:

Zhang‐Rutledge, Kathy ; Owen, Mallory ; Sweeney, Nathaly M....
Prenatal Diagnosis. 42 (2022) 6 - p. 705-716 , 2022

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

11

eP286: Genome-to-treatment: A system to guide the acute man..:

Willis, Mary ; Owen, Mallory ; Lefebvre, Sebastien...
Genetics in Medicine. 24 (2022) 3 - p. S181 , 2022

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

12

Implementation-effectiveness trial of systematic family hea..:

Wu, R. Ryanne ; Myers, Rachel A. ; Neuner, Joan...
BMC Health Services Research. 22 (2022) 1 - p. , 2022

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

13

Expanding the phenotypic and molecular spectrum ofNFS1‐rela..:

Yang, Jennifer H. ; Friederich, Marisa W. ; Ellsworth, Katarzyna A....
Human Mutation. 43 (2022) 3 - p. 305-315 , 2022

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

14

Abnormal SCID Newborn Screening and Spontaneous Recovery As..:

Kuehn, Hye Sun ; Gloude, Nicholas J. ; Dimmock, David...
Journal of Clinical Immunology. 41 (2021) 6 - p. 1241-1249 , 2021

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

15

Author Correction: Rapid whole genome sequencing impacts ca..:

Sweeney, Nathaly M. ; Nahas, Shareef A. ; Chowdhury, Shimul...
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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