Resultados de procura - J. Tinker

Informing the Design of an Accessible Arabic Typeface: A Visual Analysis to Identify Letterform Features of Dyslexia-Friendly Typefaces por Muneera Mohamed Hejres, Amanda J. Tinker

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New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication por Yutaka Furuta, Erica T. Nelson, Rory J. Tinker, Angela R. Grochowsky

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The Impact of Ethnic and Communication Barriers on Fatal Metabolic Emergent Management of Traumatic Injury: A Case Report por Yutaka Furuta, Rory J. Tinker, Angela R. Grochowsky, John A. Phillips

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What are the prospects for seasonal prediction of the marine environment of the North-west European Shelf? por J. Tinker, J. Krijnen, R. Wood, R. Barciela, S. R. Dye, S. R. Dye

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Interventions to optimize antimicrobial stewardship por Nick J. Tinker, Rachel A. Foster, Brandon J. Webb, Souha Haydoura, Whitney R. Buckel, Edward A. Stenehjem

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An EHR-based framework for modeling growth curves and constructing growth centile charts for genetic disorders por Cathy Shyr, Rory J. Tinker, Rebekah F. Brown, Adam Wright, Josh F. Peterson, John A. Phillips, S. Trent Rosenbloom, Lisa Bastarache

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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases por Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

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Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features por Rory J. Tinker, Neil Jacob, Mohammad Ghouse Syed, Janhawi Kelkar, Colleen Donnelly, Ibrahim Elsharkawi, Jaya Ganesh, Bruce D. Gelb, Vikas Pejaver, Tamas Kozicz, Eva Morava

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Twenty-first century marine climate projections for the NW European shelf seas based on a perturbed parameter ensemble por J. Tinker, M. D. Palmer, M. D. Palmer, B. J. Harrison, E. O'Dea, E. O'Dea, D. M. H. Sexton, K. Yamazaki, J. W. Rostron

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Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG por Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, Georgia MacDonald, Yutaka Furuta, Daniel Schecter, Andrew C. Edmondson, Anne McRae, Josh Baker, Eva Morava, Rory J. Tinker

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A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype por Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault

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Projected sea level rise and changes in extreme storm surge and wave events during the 21st century in the region of Singapore por H. Cannaby, M. D. Palmer, T. Howard, L. Bricheno, D. Calvert, J. Krijnen, R. Wood, J. Tinker, C. Bunney, J. Harle, A. Saulter, C. O'Neill, C. Bellingham, J. Lowe

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Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease por Daniel R. Schecter, Rory J. Tinker, Patrick O’Connell, Jiuhong Pang, Simon SzeKing Lee, Meltem Ece Kars, Aysegul Guvenek, Michael Preuss, Yuval Itan, Eva Morava, Tamas Kozicz, Michio Hirano, Ali Naini, Jaya Ganesh

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... por Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III

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Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024 por Yutaka Furuta, Neena S. Agrawal, Natalie N. Owen, Lisa A. Bastarache, Cathy Shyr, Hanabi U. Geiger, Shayna Jackson, Chelsea J. Lauderdale, Camille R. Carter, Karee A. Morgan, Rizwan Hamid, John A. Phillips III, Rory J. Tinker

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Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil por Roozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, Rory J. Tinker, Flavio Augusto de Padua Milagres, Rafael Brustulin, Maria da Aparecida Rodrigues Teles, Rogério Togisaki das Chagas, Cassia Vitória de Deus Alves Soares, Aripuana Sakurada Aranha Watanabe, Cecilia Salete Alencar, Fabiola Villanova, Xutao Deng, Eric Delwart, Adriana Luchs, Élcio Leal, Ester Cerdeira Sabino

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Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural An... por Yutaka Furuta, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, Thomas A. Cassini, Lynette Rives, Ashley McMinn, Shailee Shah, Amanda C. Peltier, Stephen Layfield, Robin S. Fletcher, Matthew L. Tedder, Raymond J. Louie, Jennifer A. Lee, Jennifer Kerkhof, Jessica Rzasa, Bekim Sadikovic, Abdullah Al Mamun, Jonathan H. Sheehan, Christopher W. Moth, Jens Meiler, Marissa Vawter‐Lee, Paola Maria Mendoza‐Sengco, Jennifer B. Holzen, Sumit Pruthi, John A. Phillips III, Rory J. Tinker, the Undiagnosed Diseases Network

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