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J BUNYAN

Showing results (21-30 of 62) with videos related to

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British Journal of Cancer|November 27, 2001
Minisatellite instability is found in colorectal tumours with mismatch repair deficiencyM G Coleman, A C Gough, D J Bunyan, et al.
European Journal of Medical Genetics|May 4, 2020
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domainsEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.
Clinical Genetics|September 23, 2022
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney diseaseEleanor G Seaby, Steven Turner, David J Bunyan, et al.
Human Genetics|May 1, 1994
Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophyD J Bunyan, D O Robinson, A L Collins, et al.
American Journal of Medical Genetics. Part A|August 23, 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domainEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.
Cytogenetic and Genome Research|March 17, 2023
SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype CohortsDavid J Bunyan, James I Hobbs, Philippa J Duncan-Flavell, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N Vlangos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSanthosh Girirajan, Christopher N Vlangos, Barbara B Szomju, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureN Simon Thomas, John F Harvey, David J Bunyan, et al.
Pageof 7

Showing results (21-30 of 62) with videos related to

Sort By:
Pageof 7
British Journal of Cancer|November 27, 2001
Minisatellite instability is found in colorectal tumours with mismatch repair deficiencyM G Coleman, A C Gough, D J Bunyan, et al.
European Journal of Medical Genetics|May 4, 2020
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domainsEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.
Clinical Genetics|September 23, 2022
A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney diseaseEleanor G Seaby, Steven Turner, David J Bunyan, et al.
Human Genetics|May 1, 1994
Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophyD J Bunyan, D O Robinson, A L Collins, et al.
American Journal of Medical Genetics. Part A|August 23, 2020
Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domainEsther Cross, Philippa J Duncan-Flavell, Rachel J Howarth, et al.
Cytogenetic and Genome Research|March 17, 2023
SHOX Whole Gene Duplications Are Overrepresented in SHOX Haploinsufficiency Phenotype CohortsDavid J Bunyan, James I Hobbs, Philippa J Duncan-Flavell, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 9, 2015
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosisChristine Gast, Reuben J Pengelly, Matthew Lyon, et al.
American Journal of Medical Genetics. Part A|April 14, 2007
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N Vlangos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 18, 2006
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSanthosh Girirajan, Christopher N Vlangos, Barbara B Szomju, et al.
American Journal of Medical Genetics. Part A|June 18, 2009
Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on statureN Simon Thomas, John F Harvey, David J Bunyan, et al.
Pageof 7