E-LIB Suche - Ergebnisse für: Williams, Katie B.

1

Development and assessment of educational materials for spi..:

Eichten, Carly ; Kuhl, Ashley ; Baker, Mei...
Journal of Genetic Counseling. , 2024

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

2

Clinical characterization of familial hypercholesterolemia ..:

Williams, Katie B. ; Horst, Michael ; Young, Millie...
BMC Cardiovascular Disorders. 22 (2022) 1 - p. , 2022

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

3

Telemedicine in the Amish and Mennonite communities of Wisc..:

Zoran, Sara ; Anbouba, Grace ; Zhao, Qianqian...
Journal of Community Genetics. 13 (2022) 4 - p. 445-448 , 2022

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

4

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gen..:

Lin, Siying ; Sanchez-Bretaño, Aida ; Leslie, Joseph S....
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

5

Cross-sectional survey on genetic testing utilization and p..:

Williams, Katie B. ; Lasarev, Michael R. ; Baker, Mei.
Journal of Community Genetics. 14 (2022) 1 - p. 41-49 , 2022

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

6

Glutaric acidemia type 1: Treatment and outcome of 168 pati..:

Strauss, Kevin A. ; Williams, Katie B. ; Carson, Vincent J....
Molecular Genetics and Metabolism. 131 (2020) 3 - p. 325-340 , 2020

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

7

No association between SCN9A and monogenic human epilepsy d..:

Fasham, James ; Leslie, Joseph S. ; Harrison, Jamie W....
PLOS Genetics. 16 (2020) 11 - p. e1009161 , 2020

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

8

Branched-chain α-ketoacid dehydrogenase deficiency (maple s..:

Strauss, Kevin A. ; Carson, Vincent J. ; Soltys, Kyle...
Molecular Genetics and Metabolism. 129 (2020) 3 - p. 193-206 , 2020

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

9

RSRC1 loss-of-function variants cause mild to moderate auto..:

Maroofian, Reza ; Houlden, Henry ; Puffenberger, Erik...
Brain. 143 (2020) 4 - p. e31-e31 , 2020

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

10

Genomic diagnostics within a medically underserved populati..:

Strauss, Kevin A. ; Gonzaga-Jauregui, Claudia ; Brigatti, Karlla W....
Genetics in Medicine. 20 (2018) 1 - p. 31-41 , 2018

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

11

Homozygosity for a mutation affecting the catalytic domain ..:

Williams, Katie B ; Brigatti, Karlla W ; Puffenberger, Erik G...
Human Molecular Genetics. 28 (2018) 4 - p. 525-538 , 2018

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

12

Management of Congenital Heart Disease Associated with Elli..:

Chowdhury, Devyani ; Williams, Katie B. ; Chidekel, Aaron...
The Journal of Pediatrics. 191 (2017) - p. 145-151 , 2017

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

13

Diaminobutane (DAB) Dendrimers Are Potent Binders of Oral P..:

Williams, Katie B ; Barycka, Katarzyna ; Zella, Julia B.
Journal of Bone and Mineral Research. 24 (2009) 1 - p. 97-101 , 2009

Link: https://doi.org/10.1359/..

14

2-Methylene-19-nor-20(S)-1α-hydroxy-bishomopregnacalciferol..:

Williams, Katie B. ; DeLuca, Hector F.
Steroids. 73 (2008) 12 - p. 1277-1284 , 2008

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

15

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gen..:

Lin, Siying ; Sanchez-Bretano, Aida ; Leslie, Joseph S...
https://eprints.soton.ac.uk/454189/1/Lin_et_al_OCA_paper_Fig_1_3_Nov_2021.EMF. , 2022

Link: https://eprints.soton.ac..