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Georgina Hall

Showing results (21-30 of 41) with videos related to

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European Journal of Medical Genetics|July 2, 2013
A clinical molecular genetic service for United Kingdom families with choroideraemiaSimon C Ramsden, Anna O'Grady, Tracy Fletcher, et al.
Blood|December 6, 2003
Natural history of GATA1 mutations in Down syndromeMomin Ahmed, Alexander Sternberg, Georgina Hall, et al.
British Journal of Haematology|April 4, 2012
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropeniaBradley N Smith, Catherine Evans, Akbar Ali, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasiaRachel L Taylor, Carla Sanjuro Soriano, Simon Williams, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and CounsellorsAnna Middleton, Peter Marks, Anita Bruce, et al.
Orphanet Journal of Rare Diseases|September 16, 2016
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicityPanagiotis I Sergouniotis, Stephanie J Barton, Sarah Waller, et al.
Lancet (London, England)|May 20, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndromeJamie M Ellingford, Panagiotis I Sergouniotis, Rachel Lennon, et al.
Journal of Medical Genetics|September 18, 2017
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testingJosie Innes, Lisa Reali, Jill Clayton-Smith, et al.
Leukemia|October 23, 2012
Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemiaChristoph Lutz, Petter S Woll, Georgina Hall, et al.
Investigative Ophthalmology & Visual Science|May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic studyArundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
Pageof 5

Showing results (21-30 of 41) with videos related to

Sort By:
Pageof 5
European Journal of Medical Genetics|July 2, 2013
A clinical molecular genetic service for United Kingdom families with choroideraemiaSimon C Ramsden, Anna O'Grady, Tracy Fletcher, et al.
Blood|December 6, 2003
Natural history of GATA1 mutations in Down syndromeMomin Ahmed, Alexander Sternberg, Georgina Hall, et al.
British Journal of Haematology|April 4, 2012
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropeniaBradley N Smith, Catherine Evans, Akbar Ali, et al.
Orphanet Journal of Rare Diseases|March 5, 2022
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasiaRachel L Taylor, Carla Sanjuro Soriano, Simon Williams, et al.
European Journal of Human Genetics : EJHG|March 23, 2017
The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and CounsellorsAnna Middleton, Peter Marks, Anita Bruce, et al.
Orphanet Journal of Rare Diseases|September 16, 2016
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicityPanagiotis I Sergouniotis, Stephanie J Barton, Sarah Waller, et al.
Lancet (London, England)|May 20, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndromeJamie M Ellingford, Panagiotis I Sergouniotis, Rachel Lennon, et al.
Journal of Medical Genetics|September 18, 2017
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testingJosie Innes, Lisa Reali, Jill Clayton-Smith, et al.
Leukemia|October 23, 2012
Quiescent leukaemic cells account for minimal residual disease in childhood lymphoblastic leukaemiaChristoph Lutz, Petter S Woll, Georgina Hall, et al.
Investigative Ophthalmology & Visual Science|May 10, 2012
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic studyArundhati Dev Borman, Louise A Ocaka, Donna S Mackay, et al.
Pageof 5