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American Journal of Human Genetics
|
July 12, 2011
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth
Pekka Nieminen, Neil V Morgan, Aimée L Fenwick, et al.
Gastroenterology
|
February 24, 2010
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
Jane Louise Hartley, Nicholas C Zachos, Ban Dawood, et al.
Journal of Clinical Immunology
|
January 24, 2016
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
Tarana Singh Dang, Joseph D P Willet, Helen R Griffin, et al.
The Journal of Clinical Investigation
|
August 12, 2025
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression
Rachel J Stapley, Xenia Sawkulycz, Gabriel Hm Da Mota Araujo, et al.
Blood Vessels, Thrombosis & Hemostasis
|
August 6, 2025
Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits
Jingnan Huang, Federico Marini, Fiorella A Solari, et al.
Haematologica
|
February 26, 2026
Scott syndrome with novel compound heterozygous pathogenic variants in <i>ANO6</i> and reduced thrombin generation
Amna Ahmed, Samantha J Montague, Hrushikesh Vyas, et al.
Clinical Endocrinology
|
August 20, 2010
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
Hakan Cangul, Neil V Morgan, Julia R Forman, et al.
Journal of Thrombosis and Haemostasis : JTH
|
November 28, 2023
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
Justyne E Ross, Shruthi Mohan, Jing Zhang, et al.
American Journal of Human Genetics
|
September 23, 2000
Isolation of a cDNA representing the Fanconi anemia complementation group E gene
J P de Winter, F Léveillé, C G van Berkel, et al.
Plos Genetics
|
February 9, 2010
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
Neil V Morgan, Mark R Morris, Hakan Cangul, et al.
Page
of 28
Search research articles
Search
Showing results (241-250 of 278) with videos related to
Sort By:
Page
of 28
American Journal of Human Genetics
|
July 12, 2011
Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth
Pekka Nieminen, Neil V Morgan, Aimée L Fenwick, et al.
Gastroenterology
|
February 24, 2010
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
Jane Louise Hartley, Nicholas C Zachos, Ban Dawood, et al.
Journal of Clinical Immunology
|
January 24, 2016
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency
Tarana Singh Dang, Joseph D P Willet, Helen R Griffin, et al.
The Journal of Clinical Investigation
|
August 12, 2025
Platelet-specific SLFN14 deletion causes macrothrombocytopenia and platelet dysfunction through dysregulated megakaryocyte and platelet gene expression
Rachel J Stapley, Xenia Sawkulycz, Gabriel Hm Da Mota Araujo, et al.
Blood Vessels, Thrombosis & Hemostasis
|
August 6, 2025
Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits
Jingnan Huang, Federico Marini, Fiorella A Solari, et al.
Haematologica
|
February 26, 2026
Scott syndrome with novel compound heterozygous pathogenic variants in <i>ANO6</i> and reduced thrombin generation
Amna Ahmed, Samantha J Montague, Hrushikesh Vyas, et al.
Clinical Endocrinology
|
August 20, 2010
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism
Hakan Cangul, Neil V Morgan, Julia R Forman, et al.
Journal of Thrombosis and Haemostasis : JTH
|
November 28, 2023
Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework
Justyne E Ross, Shruthi Mohan, Jing Zhang, et al.
American Journal of Human Genetics
|
September 23, 2000
Isolation of a cDNA representing the Fanconi anemia complementation group E gene
J P de Winter, F Léveillé, C G van Berkel, et al.
Plos Genetics
|
February 9, 2010
Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
Neil V Morgan, Mark R Morris, Hakan Cangul, et al.
Page
of 28