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American Journal of Human Genetics
|
June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 7, 2014
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia
Lucia Gagliardi, Andreas W Schreiber, Christopher N Hahn, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Blood Advances
|
August 24, 2022
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies
Caner Saygin, Gregory Roloff, Christopher N Hahn, et al.
The Journal of Clinical Investigation
|
July 28, 2015
GATA2 is required for lymphatic vessel valve development and maintenance
Jan Kazenwadel, Kelly L Betterman, Chan-Eng Chong, et al.
Pathology
|
August 28, 2022
Novel modes of MPL activation in triple-negative myeloproliferative neoplasms
Saumya E Samaraweera, Tatjana Geukens, Debora A Casolari, et al.
Blood
|
September 7, 2013
Regulation of vascular leak and recovery from ischemic injury by general and VE-cadherin-restricted miRNA antagonists of miR-27
Jennifer A Young, Ka Ka Ting, Jia Li, et al.
Data in Brief
|
March 10, 2016
In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts
King-Hwa Ling, Peter J Brautigan, Sarah Moore, et al.
Blood Cancer Journal
|
April 11, 2023
TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms
Mithun Vinod Shah, Elizabeth Ngoc Hoa Tran, Syed Shah, et al.
Blood
|
December 8, 2011
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Jan Kazenwadel, Genevieve A Secker, Yajuan J Liu, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 54) with videos related to
Sort By:
Page
of 6
American Journal of Human Genetics
|
June 6, 2025
Consultation informs strategies for improving the use of functional evidence in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
The Journal of Clinical Endocrinology and Metabolism
|
June 7, 2014
ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia
Lucia Gagliardi, Andreas W Schreiber, Christopher N Hahn, et al.
Medrxiv : the Preprint Server for Health Sciences
|
December 16, 2024
Consultation informs strategies to improve functional evidence use in variant classification
Rehan M Villani, Bronwyn Terrill, Emma Tudini, et al.
Blood Advances
|
August 24, 2022
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies
Caner Saygin, Gregory Roloff, Christopher N Hahn, et al.
The Journal of Clinical Investigation
|
July 28, 2015
GATA2 is required for lymphatic vessel valve development and maintenance
Jan Kazenwadel, Kelly L Betterman, Chan-Eng Chong, et al.
Pathology
|
August 28, 2022
Novel modes of MPL activation in triple-negative myeloproliferative neoplasms
Saumya E Samaraweera, Tatjana Geukens, Debora A Casolari, et al.
Blood
|
September 7, 2013
Regulation of vascular leak and recovery from ischemic injury by general and VE-cadherin-restricted miRNA antagonists of miR-27
Jennifer A Young, Ka Ka Ting, Jia Li, et al.
Data in Brief
|
March 10, 2016
In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts
King-Hwa Ling, Peter J Brautigan, Sarah Moore, et al.
Blood Cancer Journal
|
April 11, 2023
TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms
Mithun Vinod Shah, Elizabeth Ngoc Hoa Tran, Syed Shah, et al.
Blood
|
December 8, 2011
Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature
Jan Kazenwadel, Genevieve A Secker, Yajuan J Liu, et al.
Page
of 6