Search Results - "G. E. Farrow"

case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features by Dumitrescu, C. E, Kelly, M. H, Khosravi, A, Hart, T. C, Brahim, J, White, K. E, Farrow, E. G, Nathan, M. H, Murphey, M. D, Collins, M. T

“…Summary A new case of familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) due to a novel compound heterozygous mutation in…”
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Whole‐exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis by Rengasamy Venugopalan, S., Farrow, E. G., Lypka, M.

“…Structured Objectives Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo‐Auriculo‐Vertebral Spectrum…”
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Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings by Caylor, R. C., Grote, L., Thiffault, I., Farrow, E. G., Willig, L., Soden, S., Amudhavalli, S. M., Nopper, A. J., Horii, K. A., Fleming, E., Jenkins, J., Welsh, H., Ilyas, M., Engleman, K., Abdelmoity, A., Saunders, C. J.

“…Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems…”
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Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings by Caylor, R. C., Grote, L., Thiffault, I., Farrow, E. G., Willig, L., Soden, S., Amudhavalli, S. M., Nopper, A. J., Horii, K. A., Fleming, E., Jenkins, J., Welsh, H., Ilyas, M., Engleman, K., Abdelmoity, A., Saunders, C. J.

“…The published online version contain mistake in the author list. Instead of "A.M.Ilyas" it should have been "M.Ilyas "…”
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A tectonostratigraphic framework for the Mid-Norway region by Swiecicki, T., Gibbs, P.B., Farrow, G.E., Coward, M.P.

“…The tectonostratigraphic analysis presented here aims to establish a broad stratigraphic framework within which the likely distribution of both reservoir and…”
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Geology, geochemistry, and mineralogy of the Worthington offset dike; a genetic model for offset dike mineralization in the Sudbury igneous complex by Lightfoot, Peter C, Farrow, Catharine E. G

“…The Worthington offset dyke extends for ∼ 15 km away from the SW margin of the 1850 m.y. Sudbury igneous complex. The dyke is zoned with respect to inclusion…”
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Missing Prince by G. E. Farrow

“…In the Preface to my last book I told you that when I closed my eyes I seemed to see hundreds of dear Children's faces turned towards me asking for a story;…”
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Whole‐exome sequencing identified a variant in EFTUD 2 gene in establishing a genetic diagnosis by Rengasamy Venugopalan, S., Farrow, E. G., Lypka, M.

“…Structured Abstract Objectives Craniofacial anomalies are complex and have an overlapping phenotype. Mandibulofacial Dysostosis and Oculo‐Auriculo‐Vertebral…”
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Daily Growth Banding in the Shell of the Cockle, Cardium edule by HOUSE, M. R, FARROW, G. E

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The Climate of Aldabra Atoll by Farrow, G. E.

“…Meteorological observations made by members of the expedition since August 1967 are the first to appear from Aldabra which cover a sufficient time span to…”
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Tidal Studies on Aldabra by Farrow, G. E., Brander, K. M.

“…The oceanic tide at Aldabra possesses a very large range for an atoll owing to the influence of the Mocambique Channel. The mean spring-tide range, expressed…”
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Recent Dolomitic Concretions of Crustacean Burrow Origin from Loch Sunart, West Coast of Scotland by Brian J. Brown, George E. Farrow

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Recent, Temperate, Sub-Photic, Carbonate Sedimentation: Rockall Bank, Northeast Atlantic by Terence P. Scoffin, E. Torbjorn Ale

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Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets by Farrow, Emily G, Davis, Siobhan I, Ward, Leanne M, Summers, Lelia J, Bubbear, Judith S, Keen, Richard, Stamp, Trevor C.B, Baker, Laurence R.I, Bonewald, Lynda F, White, Kenneth E

“…Abstract We previously demonstrated that the mutations Met1Val (M1V) and the deletion of nucleotides 1484–1490 (1484–1490del) in Dentin matrix protein-1 (DMP1)…”
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The role of DMP1 in autosomal recessive hypophosphatemic rickets by Farrow, E G, Davis, S I, Ward, L M, White, K E

“…Heritable disorders of disturbed phosphate handling are the most common causes of rickets and osteomalacia in developed countries. However, the molecular…”
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Geomorphology of Aldabra Atoll by Stoddart, D. R., Taylor, J. D., Fosberg, F. R., Farrow, G. E.

“…1. Regional setting Aldabra Atoll (latitude 9° 24' S, longitude 46° 20' E) is situated 420 km northwest of Madagascar and 640 km from the East African…”
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Baffin Island Fjord Macrobenthos: Bottom Communities and Environmental Significance by Syvitski, James P. M., Farrow, George E., Atkinson, R. J. A., Moore, P. G., Andrews, J. T.

“…Cluster analysis of the benthos from ten Baffin Island fjords defines six faunal associations. The macrotidal Sunneshine Fiord has a shallow kelp-related…”
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Fluid inclusions in sulfides from North and South Range Cu-Ni-PGE deposits, Sudbury Structure, Ontario by Farrow, Catharine E. G, Watkinson, David H, Jones, Peter C

“…Primary fluid inclusions in sulphides are direct evidence of the role of fluids in sulphide deposition in footwall deposits at Sudbury. Analyses of daughter…”
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Bioclastic carbonate sedimentation on a high-latitude, tide-dominated shelf; Northeast Orkney Islands, Scotland by Farrow, G. E., Allen, N. H., Akpan, E. B.

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Extended mutational analyses of FGFR1 in osteoglophonic dysplasia by Farrow, Emily G., Davis, Siobhan I., Mooney, Sean D., Beighton, Peter, Mascarenhas, Leo, Gutierrez, Yvonne R., Pitukcheewanont, Pisit, White, Kenneth E.

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