Rezultati - Rory Tinker

O52: Phenotypic convergence in the diagnostic process of Mendelian genetic disorders* od Rory Tinker, Josh Peterson, Lisa Bastarache

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O27: Leveraging electronic health records to characterize growth patterns and curves in individuals with genetic disease od Cathy Shyr, Rory Tinker, John Phillips, Lisa Bastarache

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P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases* od Rory Tinker, Lisa Bastarache, Kimberly Ezell, Serena Neumann, Yutaka Furuta, Karee Morgan, John Phillips

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35: A rare mechanism of Russell-Silver syndrome acquired from a maternally derived unbalanced translocation, t(X;11) od Rebecca B. Smith, Ashwini Yenamandra, Meng-Chang Hsiao, Yingda Wang, Sophia D. Stewart, Rory Tinker, Neena Agrawal

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P328: The contribution of mosaicism to genetic diseases and presumed de novo mutations* od Rory Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Rizwan Hamid, Joy Cogan, David Rinker, Souhrid Mukharjee, John A. Phillips

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O31: X-linked inheritance results in different sex-specific phenotypes, penetrance, disease course, diagnostic odysseys, and newborn screening sensitivity in Fabry disease od Yutaka Furuta, Natalie Owen, Lisa Bastarache, Chelsea Lauderdale, Laila AI-Shaar, Elvira Ponce, Neena Agrawal, Camille Carter, Karee Morgan, Rizwan Hamid, John Phillips, Rory Tinker

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