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Journal Articles

Concomitant Platelet Glycoprotein II-b/III-a and IV Deficiencies: Management Challenge - a Case Illustration

Tro Sekayan, Elizabeth S. Allen, Patricia Kopko, Laura Stephens, Mitchell Zhao, Brian Curtis, Mia Sullivan, Valerie Trapp-Stamborski, Annette von Drygalski

Blood (2024) 144 (Supplement 1): 5436.

https://doi.org/10.1182/blood-2024-201024

Published: 2024

Journal Articles

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Shruthi Mohan, PhD, Kristy Lee, MS, CGC, Manuel Carcao, Bhavya S Doshi, MD, Kate Downes, PhD, Geoff Kemball-Cook, PhD, Frank Leebeek, MD PhD, Jamie McCreery, MS, CGC, Connie H. Miller, PhD, Amanda B Payne, MPH,PhD, Valerie Trapp-Stamborski, PhD, Barbara A. Konkle, MD, Keith Gomez, MBBS, PhD MRCP, FRCPath

Blood (2019) 134 (Supplement_1): 5794.

https://doi.org/10.1182/blood-2019-124842

Published: 2019

Journal Articles

Distribution of Pathogenic Variants in Von Willebrand Disease Type 2A in the American Population: Results from a National Clinical Reference Laboratory

Ruchika Sharma, MD, Juliana Perez-Botero, MD, Mia J Sullivan, BS, MB, Valerie Trapp-Stamborski, PhD, Mitchell Springer, PhD, Taquanda Gilbert, Jamie McCreery, MS, CGC, Stefanie Dugan, MS, CGC, Lijun Wang, MD PhD, Sandra L Haberichter, PhD, Kenneth Dale Friedman, MD

Blood (2018) 132 (Supplement 1): 1181.

https://doi.org/10.1182/blood-2018-99-117620

Published: 2018

Journal Articles

Laboratory-Developed MLPA ® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation

Kevin Pirelli, BS, Curt Czajkowski, BS, MT(ASCP), Veronika Mladenova, BS, Stefanie Dugan, MS, CGC, Valerie Trapp-Stamborski, PhD, Kenneth D Friedman, MD, Rupa A Udani, PhD

Blood (2016) 128 (22): 1361.

https://doi.org/10.1182/blood.V128.22.1361.1361

Published: 2016

Journal Articles

Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3

Valerie Trapp-Stamborski, PhD, Stefanie N Dugan, MS, CGC, Kenneth D Friedman, MD, Matthew Anderson, MD, Rupa A Udani, PhD

Blood (2015) 126 (23): 1053.

https://doi.org/10.1182/blood.V126.23.1053.1053

Published: 2015

NARROW

Concomitant Platelet Glycoprotein II-b/III-a and IV Deficiencies: Management Challenge - a Case Illustration

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Distribution of Pathogenic Variants in Von Willebrand Disease Type 2A in the American Population: Results from a National Clinical Reference Laboratory

Laboratory-Developed MLPA ® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation

Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3

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ASH Publications

American Society of Hematology

Concomitant Platelet Glycoprotein II-b/III-a and IV Deficiencies: Management Challenge - a Case Illustration

Clingen Coagulation Factor Deficiency Variant Curation Expert Panel: Meeting the Need for Recommendations to Curate Variants in the Coagulation Factor Genes

Distribution of Pathogenic Variants in Von Willebrand Disease Type 2A in the American Population: Results from a National Clinical Reference Laboratory

Laboratory-Developed MLPA ® Probes Enable CNV Detection in the CFHR4 Gene to Aid aHUS Genetic Evaluation

Genetic Evaluation in aHUS: Characterization of a Variant of Unknown Significance in CFHR3

Email alerts

ASH Publications

American Society of Hematology

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