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The Journal of Clinical Investigation
|
January 6, 2011
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells
Neil V Morgan, Sarah Goddard, Tony S Cardno, et al.
Molecular Genetics and Metabolism
|
March 16, 2010
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis
Danielle Crompton, Pauline K Rehal, Lesley MacPherson, et al.
Oncogene
|
October 14, 2003
Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma
Mark R Morris, Luke B Hesson, Kate J Wagner, et al.
The Journal of Clinical Investigation
|
August 18, 2015
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
Sarah J Fletcher, Ben Johnson, Gillian C Lowe, et al.
The Journal of Clinical Investigation
|
May 30, 2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
Manju A Kurian, Juan Zhen, Shu-Yuan Cheng, et al.
Journal of Thrombosis and Haemostasis : JTH
|
August 6, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
Karyn Megy, Kate Downes, Marie-Christine Morel-Kopp, et al.
American Journal of Human Genetics
|
November 27, 2010
Whole-exome-sequencing-based discovery of human FADD deficiency
Alexandre Bolze, Minji Byun, David McDonald, et al.
Acta Neuropathologica Communications
|
December 6, 2014
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
Arthur B McKie, Atif Alsaedi, Julie Vogt, et al.
Brain : a Journal of Neurology
|
September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
Manju A Kurian, Esther Meyer, Grace Vassallo, et al.
Frontiers in Science
|
December 11, 2025
Precision cardiovascular medicine: shifting the innovation paradigm
Masanori Aikawa, Abhijeet R Sonawane, Sarvesh Chelvanambi, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 88) with videos related to
Sort By:
Page
of 9
The Journal of Clinical Investigation
|
January 6, 2011
Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells
Neil V Morgan, Sarah Goddard, Tony S Cardno, et al.
Molecular Genetics and Metabolism
|
March 16, 2010
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis
Danielle Crompton, Pauline K Rehal, Lesley MacPherson, et al.
Oncogene
|
October 14, 2003
Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma
Mark R Morris, Luke B Hesson, Kate J Wagner, et al.
The Journal of Clinical Investigation
|
August 18, 2015
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects
Sarah J Fletcher, Ben Johnson, Gillian C Lowe, et al.
The Journal of Clinical Investigation
|
May 30, 2009
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
Manju A Kurian, Juan Zhen, Shu-Yuan Cheng, et al.
Journal of Thrombosis and Haemostasis : JTH
|
August 6, 2021
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
Karyn Megy, Kate Downes, Marie-Christine Morel-Kopp, et al.
American Journal of Human Genetics
|
November 27, 2010
Whole-exome-sequencing-based discovery of human FADD deficiency
Alexandre Bolze, Minji Byun, David McDonald, et al.
Acta Neuropathologica Communications
|
December 6, 2014
Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
Arthur B McKie, Atif Alsaedi, Julie Vogt, et al.
Brain : a Journal of Neurology
|
September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy
Manju A Kurian, Esther Meyer, Grace Vassallo, et al.
Frontiers in Science
|
December 11, 2025
Precision cardiovascular medicine: shifting the innovation paradigm
Masanori Aikawa, Abhijeet R Sonawane, Sarvesh Chelvanambi, et al.
Page
of 9