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J BUNYAN

Showing results (51-60 of 62) with videos related to

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Human Genetics|August 18, 2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsGaia Gestri, Robert J Osborne, Alexander W Wyatt, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.
Kidney International|November 28, 2008
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosisRodney D Gilbert, Claire L S Turner, Jane Gibson, et al.
The British Journal of Ophthalmology|May 25, 2007
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsP Bakrania, D O Robinson, D J Bunyan, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disordersCarolina Jaramillo Oquendo, Federico Ferraro, Htoo A Wai, et al.
American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman, Tracey C S Neilson, Veronica Mash, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Human Genetics|January 3, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, et al.
Human Mutation|February 11, 2011
Recurrence and variability of germline EPCAM deletions in Lynch syndromeRoland P Kuiper, Lisenka E L M Vissers, Ramprasath Venkatachalam, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Human Genetics|August 18, 2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsGaia Gestri, Robert J Osborne, Alexander W Wyatt, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.
Kidney International|November 28, 2008
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosisRodney D Gilbert, Claire L S Turner, Jane Gibson, et al.
The British Journal of Ophthalmology|May 25, 2007
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsP Bakrania, D O Robinson, D J Bunyan, et al.
European Journal of Human Genetics : EJHG|March 11, 2026
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disordersCarolina Jaramillo Oquendo, Federico Ferraro, Htoo A Wai, et al.
American Journal of Human Genetics|February 7, 2008
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathwaysPreeti Bakrania, Maria Efthymiou, Johannes C Klein, et al.
European Journal of Human Genetics : EJHG|August 4, 2005
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndromeTony Charman, Tracey C S Neilson, Veronica Mash, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of <i>FOXL2</i> Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
Human Genetics|January 3, 2024
Predicting the impact of rare variants on RNA splicing in CAGI6Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, et al.
Human Mutation|February 11, 2011
Recurrence and variability of germline EPCAM deletions in Lynch syndromeRoland P Kuiper, Lisenka E L M Vissers, Ramprasath Venkatachalam, et al.
Pageof 7