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Isabelle Russell-Eggitt

Showing results (31-40 of 38) with videos related to

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Nature Genetics|April 10, 2002
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndromeTom Hearn, Glenn L Renforth, Cosma Spalluto, et al.
The Journal of Physiology|February 9, 2011
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndromeDorothy A Thompson, Sally Feather, Horia C Stanescu, et al.
Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Plos One|August 6, 2014
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessAlice E Davidson, Sek-Shir Cheong, Pirro G Hysi, et al.
American Journal of Human Genetics|April 23, 2005
Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge, Alison G Brown, Charlotte M Poloschek, et al.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Pageof 4

Showing results (31-40 of 38) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 38 results.
Nature Genetics|April 10, 2002
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndromeTom Hearn, Glenn L Renforth, Cosma Spalluto, et al.
The Journal of Physiology|February 9, 2011
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndromeDorothy A Thompson, Sally Feather, Horia C Stanescu, et al.
Archives of Internal Medicine|March 30, 2005
New Alström syndrome phenotypes based on the evaluation of 182 casesJan D Marshall, Roderick T Bronson, Gayle B Collin, et al.
Plos One|March 14, 2012
Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapyMei Hong Tan, Donna S Mackay, Jill Cowing, et al.
Plos One|August 6, 2014
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessAlice E Davidson, Sek-Shir Cheong, Pirro G Hysi, et al.
American Journal of Human Genetics|April 23, 2005
Heterozygous mutations of OTX2 cause severe ocular malformationsNicola K Ragge, Alison G Brown, Charlotte M Poloschek, et al.
American Journal of Ophthalmology|August 2, 2008
Ophthalmological aspects of Pierson syndromeCecilie Bredrup, Verena Matejas, Margaret Barrow, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
Pageof 4