E-LIB Suche - Ergebnisse für: Rehder, Catherine W.

1

Two years of newborn screening for Duchenne muscular dystro..:

Kucera, Katerina S. ; Boyea, Beth Lincoln ; Migliore, Brooke...
Genetics in Medicine. 26 (2024) 1 - p. 101009 , 2024

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

2

Interpretation and reporting of large regions of homozygosi..:

Gonzales, Patrick R. ; Andersen, Erica F. ; Brown, Teneille R....
Genetics in Medicine. 24 (2022) 2 - p. 255-261 , 2022

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

3

Development of a clinically validated in vitro functional a..:

Goomber, Shelly ; Huggins, Erin ; Rehder, Catherine W....
Frontiers in Genetics. 13 (2022) - p. , 2022

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

4

Points to consider in the reevaluation and reanalysis of ge..:

Deignan, Joshua L. ; Chung, Wendy K. ; Kearney, Hutton M....
Genetics in Medicine. 21 (2019) 6 - p. 1267-1270 , 2019

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

5

Changing the clinical course of infantile Pompe disease wit..:

Desai, Ankit K. ; Kazi, Zoheb B. ; Bali, Deeksha S....
Molecular Genetics and Metabolism. 126 (2019) 2 - p. S48 , 2019

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

6

Identification of EPCAM mutation: clinical use of microarra:

Tan, Queenie K.‐G. ; Cardona, Diana M. ; Rehder, Catherine W..
Clinical Case Reports. 5 (2017) 6 - p. 980-985 , 2017

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

7

CRIM-negative infantile Pompe disease: characterization of ..:

Berrier, Kathryn L. ; Kazi, Zoheb B. ; Prater, Sean N....
Genetics in Medicine. 17 (2015) 11 - p. 912-918 , 2015

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

8

The emerging natural history of cross-reactive immunologic ..:

Sheets, Kathryn B. ; Kishnani, Priya S. ; Kazi, Zoheb...
Molecular Genetics and Metabolism. 111 (2014) 2 - p. S97 , 2014

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

9

Algorithm for the Early Diagnosis and Treatment of Patients..:

Banugaria, Suhrad G. ; Prater, Sean N. ; Patel, Trusha T....
PLoS ONE. 8 (2013) 6 - p. e67052 , 2013

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

10

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/..

11

American College of Medical Genetics and Genomics: standard..:

Rehder, Catherine W. ; David, Karen L. ; Hirsch, Betsy...
Genetics in Medicine. 15 (2013) 2 - p. 150-152 , 2013

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

12

Acute Myeloid Leukemia With Translocation 8;16: A Rare Recu..:

Papavassiliou, Paulie ; Horn, Sarah R. ; Kulbacki, Evan...
American Journal of Clinical Pathology. 138 (2012) suppl 2 - p. A343-A343 , 2012

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

13

Common mutation in the PHKA2 gene with variable phenotype i..:

Achouitar, Samira ; Goldstein, Jennifer L. ; Mohamed, Miski...
Molecular Genetics and Metabolism. 104 (2011) 4 - p. 691-694 , 2011

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

14

Clinical and molecular predictors of disease severity and s..:

Weinberg, J. Brice ; Volkheimer, Alicia D. ; Chen, Youwei...
American Journal of Hematology. 82 (2007) 12 - p. 1063-1070 , 2007

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

15

Clinical experience with array CGH: Case presentations from..:

Poss, Alexis F. ; Goldenberg, Paula C. ; Rehder, Catherine W....
American Journal of Medical Genetics Part A. 140A (2006) 19 - p. 2050-2056 , 2006

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