E-LIB Suche - Ergebnisse für: Mackenzie, William

1

Clinical utility of comprehensive gene panel testing for co..:

MacCarrick, Gretchen ; Aradhya, Swaroop ; Bailey, Mitch...
American Journal of Medical Genetics Part A. , 2024

2

Posterior cervical spinal fusion in the pediatric populatio..:

Spiessberger, Alexander ; Newton, Peter O. ; Mackenzie, William...
Child's Nervous System. 39 (2023) 6 - p. 1573-1580 , 2023

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

3

Addressing the need for patient-friendly medical communicat..:

Bruce, Iain A. ; Ezgü, Fatih S. ; Kampmann, Christoph...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

4

eP409: Clinical utility of a sponsored, no-charge skeletal ..:

MacCarrick, Gretchen ; Mackenzie, William ; Raggio, Cathleen...
Genetics in Medicine. 24 (2022) 3 - p. S257 , 2022

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

5

Clinical utility of a sponsored, no-cost skeletal dysplasia..:

Seratti, Guillermo ; Pansare, Vikram ; Pang, Tiffany Yar...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S98 , 2021

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

6

Clinical utility of a sponsored, no-cost skeletal dysplasia..:

Seratti, Guillermo ; Pang, Tiffany ; Pansare, Vikram...
Molecular Genetics and Metabolism. 132 (2021) - p. S201 , 2021

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

7

International Consensus Statement on the diagnosis, multidi..:

Savarirayan, Ravi ; Ireland, Penny ; Irving, Melita...
Nature Reviews Endocrinology. 18 (2021) 3 - p. 173-189 , 2021

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

8

Building trust and commitment through transparency and HR c..:

Klimchak, Malayka ; Ward Bartlett, A.K. ; MacKenzie, William
Personnel Review. 49 (2020) 9 - p. 1897-1917 , 2020

Link: https://doi.org/10.1108/..

9

Biomarkers in patients with mucopolysaccharidosis type II a..:

Fujitsuka, Honoka ; Sawamoto, Kazuki ; Peracha, Hira...
Molecular Genetics and Metabolism Reports. 19 (2019) - p. 100455 , 2019

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

10

Recommendations for the management of MPS VI: systematic ev..:

MPS Consensus Programme Steering Committee ; Akyol, Mehmet Umut ; Alden, Tord D....
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

11

Recommendations for the management of MPS IVA: systematic e..:

MPS Consensus Programme Steering Committee ; Akyol, Mehmet Umut ; Alden, Tord D....
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

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

12

Molecular genetics and metabolism, special edition: Diagnos..:

Peracha, Hira ; Sawamoto, Kazuki ; Averill, Lauren...
Molecular Genetics and Metabolism. 125 (2018) 1-2 - p. 18-37 , 2018

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

13

Development of Bone Targeting Drugs:

Stapleton, Molly ; Sawamoto, Kazuki ; Alméciga-Díaz, Carlos...
International Journal of Molecular Sciences. 18 (2017) 7 - p. 1345 , 2017

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

14

Response: "Best practices in the evaluation and treatment o..:

White, Klane K. ; Savarirayan, Ravi ; Goldberg, Michael J....
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1101-1103 , 2016

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

15

SMN1 and SMN2 copy numbers in cell lines derived from patie..:

Stabley, Deborah L. ; Harris, Ashlee W. ; Holbrook, Jennifer...
Molecular Genetics & Genomic Medicine. 3 (2015) 4 - p. 248-257 , 2015

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