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Jill E Urquhart

Showing results (1-10 of 39) with videos related to

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Journal of Human Genetics|September 18, 2015
Deletion of 19q13 reveals clinical overlap with Dubowitz syndromeJill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, et al.
FEBS Letters|June 22, 2011
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family membersGeoffrey J Maher, Emma N Hilton, Jill E Urquhart, et al.
European Journal of Medical Genetics|December 23, 2023
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotypeJ Robert Harkness, Huw B Thomas, Jill E Urquhart, et al.
American Journal of Medical Genetics. Part A|January 11, 2019
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complexGlenda M Beaman, Adrian S Woolf, Raimondo M Cervellione, et al.
Investigative Ophthalmology & Visual Science|September 8, 2011
Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2Louise F Porter, Jill E Urquhart, Eamonn O'Donoghue, et al.
Clinical Dysmorphology|August 24, 2017
Marfanoid habitus is a nonspecific feature of Perrault syndromeMaria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, et al.
Investigative Ophthalmology & Visual Science|February 19, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathyAlice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, et al.
Journal of Human Genetics|January 16, 2015
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2Panagiotis I Sergouniotis, Jill E Urquhart, Simon G Williams, et al.
Human Molecular Genetics|May 23, 2007
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton, Forbes D C Manson, Jill E Urquhart, et al.
Human Mutation|December 1, 2015
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesMiriam J Smith, Jill E Urquhart, Elaine F Harkness, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Journal of Human Genetics|September 18, 2015
Deletion of 19q13 reveals clinical overlap with Dubowitz syndromeJill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, et al.
FEBS Letters|June 22, 2011
The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family membersGeoffrey J Maher, Emma N Hilton, Jill E Urquhart, et al.
European Journal of Medical Genetics|December 23, 2023
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotypeJ Robert Harkness, Huw B Thomas, Jill E Urquhart, et al.
American Journal of Medical Genetics. Part A|January 11, 2019
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complexGlenda M Beaman, Adrian S Woolf, Raimondo M Cervellione, et al.
Investigative Ophthalmology & Visual Science|September 8, 2011
Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2Louise F Porter, Jill E Urquhart, Eamonn O'Donoghue, et al.
Clinical Dysmorphology|August 24, 2017
Marfanoid habitus is a nonspecific feature of Perrault syndromeMaria Zerkaoui, Leigh A M Demain, Imane Cherkaoui Jaouad, et al.
Investigative Ophthalmology & Visual Science|February 19, 2011
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathyAlice E Davidson, Ian D Millar, Rosemary Burgess-Mullan, et al.
Journal of Human Genetics|January 16, 2015
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2Panagiotis I Sergouniotis, Jill E Urquhart, Simon G Williams, et al.
Human Molecular Genetics|May 23, 2007
Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determinationEmma N Hilton, Forbes D C Manson, Jill E Urquhart, et al.
Human Mutation|December 1, 2015
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesMiriam J Smith, Jill E Urquhart, Elaine F Harkness, et al.
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