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Maree Flaherty

Showing results (11-20 of 22) with videos related to

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Eye (London, England)|July 1, 2021
Reporting on Australian childhood visual impairment: the first 10 yearsSusan Silveira, Frank J Martin, Maree Flaherty, et al.
Ophthalmic Genetics|June 20, 2022
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveaeAkshaya L Thananjeyan, Tanya Karaconji, Maree Flaherty, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1Ivan Prokudin, Cas Simons, John R Grigg, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|July 22, 2008
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucomaMarija Mihelec, Luke St Heaps, Maree Flaherty, et al.
JAMA Ophthalmology|November 2, 2013
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrumSimon E Skalicky, Andrew J R White, John R Grigg, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
Novel SOX2 partner-factor domain mutation in a four-generation familyMarija Mihelec, Peter Abraham, Kate Gibson, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
Ophthalmic Genetics|February 20, 2014
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisYiran Guo, Ivan Prokudin, Cong Yu, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Eye (London, England)|July 1, 2021
Reporting on Australian childhood visual impairment: the first 10 yearsSusan Silveira, Frank J Martin, Maree Flaherty, et al.
Ophthalmic Genetics|June 20, 2022
A case of neurofibromatosis type 1 and unilateral glaucoma with ectropion uveaeAkshaya L Thananjeyan, Tanya Karaconji, Maree Flaherty, et al.
European Journal of Human Genetics : EJHG|November 28, 2013
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1Ivan Prokudin, Cas Simons, John R Grigg, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|July 22, 2008
Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucomaMarija Mihelec, Luke St Heaps, Maree Flaherty, et al.
JAMA Ophthalmology|November 2, 2013
Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrumSimon E Skalicky, Andrew J R White, John R Grigg, et al.
European Journal of Human Genetics : EJHG|May 28, 2009
Novel SOX2 partner-factor domain mutation in a four-generation familyMarija Mihelec, Peter Abraham, Kate Gibson, et al.
Human Mutation|December 24, 2015
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation SequencingAlan S Ma, John R Grigg, Gladys Ho, et al.
Ophthalmic Genetics|February 20, 2014
Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisYiran Guo, Ivan Prokudin, Cong Yu, et al.
Human Molecular Genetics|September 25, 2012
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGustav Y Cederquist, Anna Luchniak, Max A Tischfield, et al.
Human Mutation|June 8, 2021
Genome sequencing in congenital cataracts improves diagnostic yieldAlan Ma, John R Grigg, Maree Flaherty, et al.
Pageof 3