Výsledky vyhledávání - Sutton, V. Reid

Impact of COVID-19 on newborn screening in South Texas Autor Ward, Scott, Mackay, Laura Palmer, Sutton, V. Reid, Divin, Kristian

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The Right to Ignore Genetic Risk in the Genomic Era - Prenatal testing for Huntington Disease as a paradigm Autor Erez, Ayelet, Plunkett, Katie, Sutton, V. Reid, McGuire, Amy L

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19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency Autor Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid

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Obstetrical Challenges in Robinow Syndrome Autor Zhang, Yingao, Casanova, Marco, Shanahan, Matthew, Sutton, V. Reid, Fox, Karin

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Neuroimaging Aspects of Aicardi Syndrome Autor Hopkins, Bobbi, Sutton, V. Reid, Lewis, Richard Alan, Van den Veyver, Ignatia, Clark, Gary

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PhenoDB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features Autor Hamosh, Ada, Sobreira, Nara, Hoover-Fong, Julie, Sutton, V Reid, Boehm, Corinne, Schiettecatte, François, Valle, David

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Assessment of Longitudinal Bone Growth in Osteogenesis Imperfecta Using Metacarpophalangeal Pattern Profiles Autor Rauch, Damian, Robinson, Marie-Eve, Seiltgens, Cristian, Sutton, V. Reid, Lee, Brendan, Glorieux, Francis, Rauch, Frank

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Malocclusion traits and Oral Health-Related Quality of Life in children with Osteogenesis Imperfecta (cross-sectional study) Autor Najirad, Mohammadamin, Madathil, Sreenath Arekunnath, Rauch, Frank, Sutton, V. Reid, Lee, Brendan, Retrouvey, Jean-Marc, Esfandiari, Shahrokh

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Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis Autor Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Sutton, V. Reid, Elsea, Sarah H.

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Ophthalmologic findings in Aicardi syndrome Autor Fruhman, Gary, Eble, Tanya N., Gambhir, Nikki, Sutton, V. Reid, Van den Veyver, Ignatia B., Lewis, Richard A.

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A Genome-Wide Screen for Copy Number Alterations in Aicardi Syndrome Autor Wang, Xiaoling, Sutton, V. Reid, Eble, Tanya, Lewis, Richard Alan, Gunaratne, Preethi, Patel, Ankita, Van den Veyver, Ignatia B.

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Clinical Utility of Whole-Exome Sequencing in Rare Diseases: Galactosialidosis Autor Prada, Carlos E., Gonzaga-Jauregui, Claudia, Tannenbaum, Rebecca, Penney, Samantha, Lupski, James R., Hopkin, Robert J., Sutton, V. Reid

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Chronic Oral l-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients with Organic Acidemias Despite Dietary Meat Restrictions Autor Miller, Marcus J., Bostwick, Bret L., Kennedy, Adam D., Donti, Taraka R., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.

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Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine Autor Cappuccio, Gerarda, Atwal, Paldeep S., Donti, Taraka R., Ugarte, Kiki, Merchant, Nadia, Craigen, William J., Sutton, V. Reid, Elsea, Sarah H.

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Liver-Directed Adeno-Associated Virus Serotype 8 Gene Transfer Rescues a Lethal Murine Model of Citrullinemia Type 1 Autor Chandler, Randy J., Tarasenko, Tatiana N., Cusmano-Ozog, Kristina, Sun, Qin, Sutton, V. Reid, Venditti, Charles P., McGuire, Peter J.

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A rare human syndrome provides genetic evidence that WNT signaling is required for reprogramming of fibroblasts to induced pluripotent stem cells Autor Ross, Jason, Busch, Julia, Mintz, Ellen, Ng, Damian, Stanley, Alexandra, Brafman, David, Sutton, V. Reid, Van den Veyver, Ignatia, Willert, Karl

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Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening Autor Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.

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Non-random X chromosome inactivation in Aicardi syndrome Autor Eble, Tanya N., Sutton, V. Reid, Sangi-Haghpeykar, Haleh, Wang, Xiaoling, Jin, Weihong, Lewis, Richard A., Fang, Ping, Van den Veyver, Ignatia B.

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Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pil... Autor Tosi, Laura L., Floor, Marianne K., Dollar, Christina M., Gillies, Austin P., Hart, Tracy S., Cuthbertson, David D., Sutton, V. Reid, Krischer, Jeffrey P.

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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V Autor Retrouvey, Jean-Marc, Taqi, Doaa, Tamimi, Faleh, Dagdeviren, Didem, Glorieux, Francis H., Lee, Brendan, Hazboun, Renna, Krakow, Deborah, Sutton, V. Reid, Rauch, Frank

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