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Judith A Goodship

Showing results (31-40 of 57) with videos related to

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Heart (British Cardiac Society)|October 13, 2010
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin, Ana Töpf, Elise Glen, et al.
Journal of Medical Genetics|September 28, 2014
Factors determining penetrance in familial atypical haemolytic uraemic syndromeFrancis H Sansbury, Heather J Cordell, Coralie Bingham, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2003
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndromeAnna Richards, Elizabeth J Kemp, M Kathryn Liszewski, et al.
Kidney International|March 29, 2002
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutationsCoralie Bingham, Sian Ellard, Trevor R P Cole, et al.
Journal of Immunology (Baltimore, Md. : 1950)|April 22, 2008
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activityAnna M Blom, Frida Bergström, Matthew Edey, et al.
Human Mutation|May 6, 2008
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligenceSamia A Temtamy, Mona S Aglan, Maria Valencia, et al.
Human Mutation|February 14, 2006
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndromeStefan Heinen, Pilar Sanchez-Corral, Michael S Jackson, et al.
Plos Medicine|November 2, 2006
Atypical haemolytic uraemic syndrome associated with a hybrid complement geneJulian P Venables, Lisa Strain, Danny Routledge, et al.
Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.
American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.
Pageof 6

Showing results (31-40 of 57) with videos related to

Sort By:
Pageof 6
Heart (British Cardiac Society)|October 13, 2010
Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variantsHelen R Griffin, Ana Töpf, Elise Glen, et al.
Journal of Medical Genetics|September 28, 2014
Factors determining penetrance in familial atypical haemolytic uraemic syndromeFrancis H Sansbury, Heather J Cordell, Coralie Bingham, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 21, 2003
Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndromeAnna Richards, Elizabeth J Kemp, M Kathryn Liszewski, et al.
Kidney International|March 29, 2002
Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutationsCoralie Bingham, Sian Ellard, Trevor R P Cole, et al.
Journal of Immunology (Baltimore, Md. : 1950)|April 22, 2008
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activityAnna M Blom, Frida Bergström, Matthew Edey, et al.
Human Mutation|May 6, 2008
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligenceSamia A Temtamy, Mona S Aglan, Maria Valencia, et al.
Human Mutation|February 14, 2006
De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndromeStefan Heinen, Pilar Sanchez-Corral, Michael S Jackson, et al.
Plos Medicine|November 2, 2006
Atypical haemolytic uraemic syndrome associated with a hybrid complement geneJulian P Venables, Lisa Strain, Danny Routledge, et al.
Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.
American Journal of Human Genetics|October 16, 2012
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralizationStephen R F Twigg, Deborah Lloyd, Dagan Jenkins, et al.
Pageof 6