Arama Sonuçları - Hopkin, Robert J.

Use of the Term “Antley-Bixler Syndrome”: Minimizing Confusion Yazar: Cragun, Deborah, Hopkin, Robert J.

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Renal Complications of Fabry Disease in Children Yazar: Najafian, Behzad, Mauer, Michael, Hopkin, Robert J, Svarstad, Einar

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Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease Yazar: Hamed, Alaa, DasMahapatra, Pronabesh, Lyn, Nicole, Gwaltney, Chad, Hopkin, Robert J.

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Widespread Vasculopathy in a Patient with Morquio A Syndrome Yazar: Powell, Adam W., Taylor, Michael D., Burrow, T. Andrew, Hopkin, Robert J., Prada, Carlos E., Jefferies, John L.

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A Novel Dominant COL11A1 Mutation Resulting in a Severe Skeletal Dysplasia Yazar: Hufnagel, Sophia B, Weaver, K Nicole, Hufnagel, Robert B, Bader, Patricia I, Schorry, Elizabeth K, Hopkin, Robert J

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Concurrent Course of Transient Neonatal Diabetes with Cholestasis and Paucity of Interlobular Bile Ducts: A Case Report Yazar: Kenny, Alan P., Crimmins, Nancy A., Mackay, Deborah J.G., Hopkin, Robert J., Bove, Kevin E., Leonis, Mike A.

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

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 Yazar: Prada, Carlos E., Hufnagel, Robert B., Hummel, Trent R., Lovell, Anne M., Hopkin, Robert J., Saal, Howard M., Schorry, Elizabeth K.

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Mandibulofacial dysostosis with microcephaly: an expansion of the phenotype via parental survey Yazar: Abell, Katherine, Hopkin, Robert J, Bender, Patricia L, Jackson, Farrah, Smallwood, Kelly, Sullivan, Bonnie, Stottmann, Rolf W, Saal, Howard M, Weaver, K Nicole

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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines Yazar: Li, Mindy, Glass, Jennifer, Du, Xiaoli, Dubbs, Holly, Harr, Margaret Horton, Falk, Marni, Smolarek, Teresa, Hopkin, Robert J., Zackai, Elaine, Sheppard, Sarah E.

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Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and imm... Yazar: Li, Cindy, Desai, Ankit K., Gupta, Punita, Dempsey, Katherine, Bhambhani, Vikas, Hopkin, Robert J., Ficicioglu, Can, Tanpaiboon, Pranoot, Craigen, William J., Rosenberg, Amy S., Kishnani, Priya S.

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Early-Lethal Costello syndrome due to rare HRAS tandem base substitution (c.35_36GC>AA; p.G12E) associated pulmonary vascular disease Yazar: Nicole Weaver, K., Wang, Dehua, Cnota, James, Gardner, Nicholas, Stabley, Deborah, Sol-Church, Katia, Gripp, Karen W., Witte, David P., Bove, Kevin E., Hopkin, Robert J.

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Alu-Element Insertion in PKLR Gene as a Novel Cause of Pyruvate Kinase Deficiency in Middle Eastern Patients Yazar: Lesmana, Harry, Dyer, Lisa, Li, Xia, Denton, James, Griffiths, Jenna, Chonat, Satheesh, Seu, Katie G., Heeney, Matthew M., Zhang, Kejian, Hopkin, Robert J., Kalfa, Theodosia A.

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XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing Yazar: Kim, Ahlee, Abell, Katherine, Johnson, Jodie, Cizek, Stephanie, Breech, Lesley, Ernst, Michelle M., Hopkin, Robert J., Kennedy, Kimberly, Stanek, Jerzy, Strine, Andrew C., Rutter, Meilan M.

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Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome Yazar: Hong, Sungkook, Hu, Ping, Marino, Juliana, Hufnagel, Sophia B., Hopkin, Robert J., Toromanović, Alma, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A., Kruszka, Paul, Roessler, Erich, Muenke, Maximilian

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease... Yazar: Germain, Dominique P, Oliveira, João Paulo, Bichet, Daniel G, Yoo, Han-Wook, Hopkin, Robert J, Lemay, Roberta, Politei, Juan, Wanner, Christoph, Wilcox, William R, Warnock, David G

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Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry Yazar: Wilcox, William R., Feldt-Rasmussen, Ulla, Martins, Ana Maria, Ortiz, Alberto, Lemay, Roberta M., Jovanovic, Ana, Germain, Dominique P., Varas, Carmen, Nicholls, Katherine, Weidemann, Frank, Hopkin, Robert J.

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Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence Yazar: Lukacs, Marshall, Gilley, Jonathan, Zhu, Yi, Orsomando, Giuseppe, Angeletti, Carlo, Liu, Jiaqi, Yang, Xiuna, Park, Joun, Hopkin, Robert J., Coleman, Michael P., Zhai, R. Grace, Stottmann, Rolf W.

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Cognitive Function in Adults Aging with Fabry Disease: A Case–Control Feasibility Study Using Telephone-Based Assessments Yazar: Wadley, Virginia G., McClure, Leslie A., Warnock, David G., Lassen-Greene, Caroline L., Hopkin, Robert J., Laney, Dawn A., Clarke, Virginia M., Tamura, Manjula Kurella, Howard, George, Sims, Katherine

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Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency Yazar: Moretti, Paolo, Peters, Sarika U., del Gaudio, Daniela, Sahoo, Trilochan, Hyland, Keith, Bottiglieri, Teodoro, Hopkin, Robert J., Peach, Elizabeth, Min, Sang Hee, Goldman, David, Roa, Benjamin, Bacino, Carlos A., Scaglia, Fernando

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