Hasil Pencarian - Radhika Dhamija

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  1. 1
    Diagnostic NGS for Severe Neuromuscular Disorders

    Diagnostic NGS for Severe Neuromuscular Disorders oleh Radhika Dhamija, Chelsea Chambers

    Diterbitkan 2015-12-01
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  2. 2
    Clinical and Molecular Characterization of ALG1-CDG

    Clinical and Molecular Characterization of ALG1-CDG oleh Radhika Dhamija, Chelsea Chambers

    Diterbitkan 2016-04-01
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  3. 3
    P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia

    P055: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency presenting with involuntary choreiform movements and dystonia oleh Mayowa Osundiji, Radhika Dhamija

    Diterbitkan 2024-01-01
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  4. 4
    LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

    LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis oleh Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija

    Diterbitkan 2021-01-01
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  5. 5
    Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

    Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings oleh Adam J. Guenzel, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija

    Diterbitkan 2021-05-01
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  6. 6
    A retrospective review of LMNB1-related autosomal dominant leukodystrophy

    A retrospective review of LMNB1-related autosomal dominant leukodystrophy oleh Judit M. Perez Ortiz, Karthik Muthusamy, W. Oliver Tobin, Ralitza Gavrilova, Margot A. Cousin, Radhika Dhamija

    Diterbitkan 2024-10-01
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  7. 7
    Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

    Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation oleh Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin

    Diterbitkan 2017-01-01
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  8. 8
    Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

    Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia oleh Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee

    Diterbitkan 2020-09-01
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  9. 9
    Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions

    Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions oleh Karthik Muthusamy, Ajith Sivadasan, Luke Dixon, Sniya Sudhakar, Maya Thomas, Sumita Danda, Zbigniew K. Wszolek, Klaas Wierenga, Radhika Dhamija, Ralitza Gavrilova

    Diterbitkan 2023-07-01
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  10. 10
    P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases

    P185: Genome and exome sequencing to define cardiac phenotypes in diagnostic odyssey cases oleh Marta Figueiral, Alessia Paldino, Matheus Wilke, Brendan Lanpher, Ralitza Gavrilova, Karthik Muthusamy, Pavel Pichurin, Radhika Dhamija, Klaas Wierenga, Myra Wick, Lisa Schimmenti, Konstantinos Lazaridis, Eric Klee, Naveen Pereira

    Diterbitkan 2024-01-01
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  11. 11
    Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

    Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases oleh Matheus V. M. B. Wilke, Eric W. Klee, Radhika Dhamija, Fernando C. Fervenza, Brittany Thomas, Nelson Leung, Marie C. Hogan, Megan M. Hager, Kayla J. Kolbert, Jennifer L. Kemppainen, Elle C. Loftus, Katie M. Leitzen, Carolyn R. Vitek, Tammy McAllister, Konstantinos N. Lazaridis, Filippo Pinto e Vairo

    Diterbitkan 2024-05-01
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  12. 12
    Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

    Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) oleh Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

    Diterbitkan 2023-06-01
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  13. 13
    Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

    Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) oleh Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis

    Diterbitkan 2024-04-01
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