E-LIB Suche - Ergebnisse für: Rehder, Catherine

1

P695: Uncertainty in interpretation of GAA variants detecte..:

Kanavy, Dona ; Goldstein, Jenny ; Pinto e Vairo, Filippo...
Genetics in Medicine Open. 2 (2024) - p. 101599 , 2024

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

2

The Global ALPL gene variant classification project: Dedica..:

Farman, Mariam R. ; Rehder, Catherine ; Malli, Theodora...
Bone. 178 (2024) - p. 116947 , 2024

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

3

P748: Duplication of 12q24.11-q24.31 in a patient with Noon..:

Francescatto, Ludmila ; Cocanougher, Benjamin ; Deak, Kristen...
Genetics in Medicine Open. 2 (2024) - p. 101652 , 2024

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

4

O39: The ClinGen Lysosomal Diseases Variant Curation Expert..:

Goldstein, Jenny ; Waddell, Amber ; Aschoff, Carlos...
Genetics in Medicine Open. 2 (2024) - p. 100877 , 2024

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

5

P723: Identification of remarkable Y chromosome structural ..:

Miller, Eric ; Rehder, Catherine ; Rentas, Stefan..
Genetics in Medicine Open. 2 (2024) - p. 101627 , 2024

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

6

Applying phenotypic evidence to support the molecular diagn..:

Groopman, Emily ; Goldstein, Jenny ; Dickson, Alexa...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108165 , 2024

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

7

Variant Classification for Pompe disease; ACMG/AMP specific..:

Goldstein, Jennifer L. ; McGlaughon, Jennifer ; Kanavy, Dona...
Molecular Genetics and Metabolism. 140 (2023) 1-2 - p. 107715 , 2023

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

8

Chronic Lymphocytic Leukemia With Two B-Cell Populations of..:

Zhao, Yue ; Siddiqi, Imran ; Wildes, Tyler J...
American Journal of Clinical Pathology. 159 (2023) 4 - p. 337-351 , 2023

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

9

P497: Two years of newborn screening for Duchenne Muscular ..:

Kucera, Katerina ; Boyea, Mary Beth ; Migliore, Brooke...
Genetics in Medicine Open. 1 (2023) 1 - p. 100544 , 2023

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

10

eP014: Establishment of a clinically validated in vitro fun..:

Goomber, Shelly ; Huggins, Erin ; Rehder, Catherine...
Genetics in Medicine. 24 (2022) 3 - p. S9-S10 , 2022

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

11

Evaluation of the GSP Creatine Kinase-MM Assay and Assessme..:

Migliore, Brooke ; Zhou, Linran ; Duparc, Martin...
International Journal of Neonatal Screening. 8 (2022) 1 - p. 12 , 2022

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

12

ETNK1 mutation occurs in a wide spectrum of myeloid neoplas..:

Shuai, Wen ; Zuo, Zhuang ; Li, Nianyi...
Cancer. 129 (2022) 6 - p. 878-889 , 2022

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

13

17. Multi-consortia initiative to standardize the represent..:

Wagner, Alex ; Vlachos, Ioannis ; Sonkin, Dmitriy...
Cancer Genetics. 260-261 (2022) - p. 6-7 , 2022

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

14

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma Wit..:

Zhao, Yue ; McCracken, Jenna ; Rehder, Catherine.
Clinical Lymphoma Myeloma and Leukemia. 22 (2022) 5 - p. e310-e313 , 2022

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

15

Functional analysis and clinical curation of human acid alp..:

Goomber, Shelly ; Yi, Haiqing ; Austin, Stephanie...
Molecular Genetics and Metabolism. 132 (2021) 2 - p. S45 , 2021

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