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Richard Caswell

Showing results (1-10 of 57) with videos related to

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American Journal of Ophthalmology|May 23, 2020
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 VariantPeter Charbel Issa, Carolyn Tysoe, Richard Caswell
The Journal of General Virology|August 19, 2007
An activation-defective mutant of the human cytomegalovirus IE2p86 protein inhibits NF-kappaB-mediated stimulation of the human interleukin-6 promoterClaire Gealy, Christine Humphreys, Vicky Dickinson, et al.
Prenatal Diagnosis|April 9, 2008
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctataCarolyn Tysoe, Caroline J Law, Richard Caswell, et al.
Clinical Dysmorphology|March 12, 2026
Case report of three siblings with nudix hydrolase 2-related neurodevelopmental disorderGrace M A Logan, Richard Caswell, Nicholas Head, et al.
Journal of Virology|December 15, 2004
Posttranscriptional suppression of interleukin-6 production by human cytomegalovirusClaire Gealy, Marian Denson, Christine Humphreys, et al.
Rheumatology (Oxford, England)|April 28, 2012
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossificationPuja Mehta, Adam Mitchell, Carolyn Tysoe, et al.
The Journal of General Virology|October 22, 2002
Analysis of the human herpesvirus-6 immediate-early 1 proteinRichard Stanton, Julie D Fox, Richard Caswell, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencingHelen McDermott, Hannah K Robinson, Richard Caswell, et al.
Human Mutation|July 7, 2017
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemiaThomas W Laver, Michael N Weedon, Richard Caswell, et al.
European Journal of Human Genetics : EJHG|June 26, 2014
An exome sequencing strategy to diagnose lethal autosomal recessive disordersSian Ellard, Emma Kivuva, Peter Turnpenny, et al.
Pageof 6

Showing results (1-10 of 57) with videos related to

Sort By:
Pageof 6
American Journal of Ophthalmology|May 23, 2020
Late-onset Pseudoxanthoma Elasticum Associated with a Hypomorphic ABCC6 VariantPeter Charbel Issa, Carolyn Tysoe, Richard Caswell
The Journal of General Virology|August 19, 2007
An activation-defective mutant of the human cytomegalovirus IE2p86 protein inhibits NF-kappaB-mediated stimulation of the human interleukin-6 promoterClaire Gealy, Christine Humphreys, Vicky Dickinson, et al.
Prenatal Diagnosis|April 9, 2008
Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctataCarolyn Tysoe, Caroline J Law, Richard Caswell, et al.
Clinical Dysmorphology|March 12, 2026
Case report of three siblings with nudix hydrolase 2-related neurodevelopmental disorderGrace M A Logan, Richard Caswell, Nicholas Head, et al.
Journal of Virology|December 15, 2004
Posttranscriptional suppression of interleukin-6 production by human cytomegalovirusClaire Gealy, Marian Denson, Christine Humphreys, et al.
Rheumatology (Oxford, England)|April 28, 2012
Novel compound heterozygous mutations in ENPP1 cause hypophosphataemic rickets with anterior spinal ligament ossificationPuja Mehta, Adam Mitchell, Carolyn Tysoe, et al.
The Journal of General Virology|October 22, 2002
Analysis of the human herpesvirus-6 immediate-early 1 proteinRichard Stanton, Julie D Fox, Richard Caswell, et al.
American Journal of Medical Genetics. Part A|September 24, 2021
Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencingHelen McDermott, Hannah K Robinson, Richard Caswell, et al.
Human Mutation|July 7, 2017
Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemiaThomas W Laver, Michael N Weedon, Richard Caswell, et al.
European Journal of Human Genetics : EJHG|June 26, 2014
An exome sequencing strategy to diagnose lethal autosomal recessive disordersSian Ellard, Emma Kivuva, Peter Turnpenny, et al.
Pageof 6