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Joe Rainger

Showing results (11-20 of 26) with videos related to

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Genes|October 27, 2022
Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) MouseBrianda A Hernandez-Moran, Andrew S Papanastasiou, David Parry, et al.
Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
G3 (Bethesda, Md.)|January 31, 2019
Arginine to Glutamine Variant in Olfactomedin Like 3 (<i>OLFML3</i>) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog BreedCarys A Pugh, Lindsay L Farrell, Ailsa J Carlisle, et al.
Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Plos Genetics|May 10, 2014
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]Sally H Cross, Danilo G Macalinao, Lisa McKie, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Pageof 3

Showing results (11-20 of 26) with videos related to

Sort By:
Pageof 3
Genes|October 27, 2022
Robust Genetic Analysis of the X-Linked Anophthalmic (<i>Ie</i>) MouseBrianda A Hernandez-Moran, Andrew S Papanastasiou, David Parry, et al.
Human Mutation|May 12, 2017
A recurrent de novo mutation in ACTG1 causes isolated ocular colobomaJoe Rainger, Kathleen A Williamson, Dinesh C Soares, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
G3 (Bethesda, Md.)|January 31, 2019
Arginine to Glutamine Variant in Olfactomedin Like 3 (<i>OLFML3</i>) Is a Candidate for Severe Goniodysgenesis and Glaucoma in the Border Collie Dog BreedCarys A Pugh, Lindsay L Farrell, Ailsa J Carlisle, et al.
Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Plos Genetics|May 10, 2014
A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected]Sally H Cross, Danilo G Macalinao, Lisa McKie, et al.
Human Molecular Genetics|June 14, 2012
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODHJoe Rainger, Hemant Bengani, Leigh Campbell, et al.
Plos One|November 22, 2022
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmiaHildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, et al.
Pageof 3