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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.
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.
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.
Journal of Thrombosis and Haemostasis : JTH
|
March 16, 2024
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome
Samantha J Montague, Joshua Price, Katherine Pennycott, et al.
Biorxiv : the Preprint Server for Biology
|
February 17, 2023
Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36
Maria N Barrachina, Gerard Pernes, Isabelle C Becker, et al.
Nature Cardiovascular Research
|
August 28, 2024
Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36
Maria N Barrachina, Gerard Pernes, Isabelle C Becker, et al.
Nature Genetics
|
June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Blood
|
June 11, 2020
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Jarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, et al.
Haematologica
|
October 7, 2017
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
José M Bastida, María L Lozano, Rocío Benito, et al.
Nature Genetics
|
March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, et al.
Page
of 9
Search research articles
Search
Showing results (71-80 of 88) with videos related to
Sort By:
Page
of 9
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.
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.
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.
Journal of Thrombosis and Haemostasis : JTH
|
March 16, 2024
Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome
Samantha J Montague, Joshua Price, Katherine Pennycott, et al.
Biorxiv : the Preprint Server for Biology
|
February 17, 2023
Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36
Maria N Barrachina, Gerard Pernes, Isabelle C Becker, et al.
Nature Cardiovascular Research
|
August 28, 2024
Efficient megakaryopoiesis and platelet production require phospholipid remodeling and PUFA uptake through CD36
Maria N Barrachina, Gerard Pernes, Isabelle C Becker, et al.
Nature Genetics
|
June 20, 2006
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
Neil V Morgan, Shawn K Westaway, Jenny E V Morton, et al.
Blood
|
June 11, 2020
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Jarmila Stremenova Spegarova, Dylan Lawless, Siti Mardhiana Binti Mohamad, et al.
Haematologica
|
October 7, 2017
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders
José M Bastida, María L Lozano, Rocío Benito, et al.
Nature Genetics
|
March 31, 2004
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Paul Gissen, Colin A Johnson, Neil V Morgan, et al.
Page
of 9