E-LIB Suche - Ergebnisse für: David, Karen L.

1

Moving toward more consistency in variant classification an..:

David, Karen L. ; Deignan, Joshua L.
Genetics in Medicine. 25 (2023) 1 - p. 12-15 , 2023

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

2

Patient re-contact after revision of genomic test results: ..:

David, Karen L. ; Best, Robert G. ; Brenman, Leslie Manace...
Genetics in Medicine. 21 (2019) 4 - p. 769-771 , 2019

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

3

Response to Knoppers et al:

David, Karen L. ; Best, Robert G. ; Brenman, Leslie Manace...
Genetics in Medicine. 21 (2019) 10 - p. 2403 , 2019

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

4

Historische Gärten und Klimawandel:

Hüttl, Reinhard F ; David, Karen ; Schneider, Bernd Uwe , 2019

Link: https://search.ebscohost..

5

Pediatric clinical exome/genome sequencing and the engageme..:

Bush, Lynn W. ; Bartoshesky, Louis E. ; David, Karen L....
Genetics in Medicine. 20 (2018) 7 - p. 692-694 , 2018

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

6

Defective ciliogenesis in INPP5E‐related Joubert syndrome:

Hardee, Isabel ; Soldatos, Ariane ; Davids, Mariska...
American Journal of Medical Genetics Part A. 173 (2017) 12 - p. 3231-3237 , 2017

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

7

Cover Image, Volume 173A, Number 12, December 2017:

Hardee, Isabel ; Soldatos, Ariane ; Davids, Mariska...
American Journal of Medical Genetics Part A. 173 (2017) 12 - p. , 2017

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

8

Prenatal SNP Microarray Analysis and Parental Follow-up of ..:

Schleede, Justin ; Papenhausen, Peter ; Risheg, Hiba...
Cancer Genetics. 209 (2016) 5 - p. 248 , 2016

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

9

Analysis of urinary cathepsin C for diagnosing Papillon-Lef..:

Hamon, Yveline ; Legowska, Monika ; Fergelot, Patricia...
FEBS Journal. 283 (2016) 3 - p. 498-509 , 2016

Link: https://doi.org/10.1111/..

10

The NINDS Parkinson's Disease Biomarkers Program (P1.194):

Gwinn, Katrina ; David, Karen ; Hillaire-Clarke, Coryse...
Neurology. 84 (2015) 14_supplement - p. , 2015

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

11

Exome sequencing identifies novel mutations in C5orf42 in p..:

Wentzensen, Ingrid M ; Johnston, Jennifer J ; Keppler-Noreuil, Kim...
Human Genome Variation. 2 (2015) 1 - p. , 2015

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

12

High Incidence of Noonan Syndrome Features Including Short ..:

Rojnueangnit, Kitiwan ; Xie, Jing ; Gomes, Alicia...
Human Mutation. 36 (2015) 11 - p. 1052-1063 , 2015

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

13

Whole exome sequence analysis of Peters anomaly:

Weh, Eric ; Reis, Linda M. ; Happ, Hannah C....
Human Genetics. 133 (2014) 12 - p. 1497-1511 , 2014

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

14

Response to Rosenberg et al:

Rehder, Catherine W. ; David, Karen L. ; Hirsch, Betsy...
Genetics in Medicine. 15 (2013) 9 - p. 754 , 2013

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

15

Technical report: ethical and policy issues in genetic test..:

Ross, Laine Friedman ; Saal, Howard M. ; David, Karen L..
Genetics in Medicine. 15 (2013) 3 - p. 234-245 , 2013

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