Hasil Pencarian - V. Reid

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  1. 1
    Bridging the science-policy divide.

    Bridging the science-policy divide. oleh Walter V Reid

    Diterbitkan 2004-02-01
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  2. 2
    Obstetrical Challenges in Robinow Syndrome

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

    Diterbitkan 2022-01-01
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  3. 3
    Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

    Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Ge... oleh Julie M. Lander, Monica Penon-Portmann, V. Reid Sutton, Irene Chang

    Diterbitkan 2024-01-01
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  4. 4
    How older adults manage misinformation and information overload - A qualitative study

    How older adults manage misinformation and information overload - A qualitative study oleh M. Vivion, V. Reid, E. Dubé, A. Coutant, A. Benoit, A. Tourigny

    Diterbitkan 2024-03-01
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  5. 5
    Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

    Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis oleh Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, V. Reid Sutton, Sarah H. Elsea, Sarah H. Elsea

    Diterbitkan 2024-06-01
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  6. 6
    Contemporary outcomes of surgery for bladder pain syndrome/interstitial cystitis

    Contemporary outcomes of surgery for bladder pain syndrome/interstitial cystitis oleh A. Downey, N.I. Osman, J.J. Parks, A. Mangera, R.D. Inman, S.V. Reid, C.R. Chapple

    Diterbitkan 2020-07-01
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  7. 7
    A Rare Human Syndrome Provides Genetic Evidence that WNT Signaling Is Required for Reprogramming of Fibroblasts to Induced Pluripotent Stem Cells

    A Rare Human Syndrome Provides Genetic Evidence that WNT Signaling Is Required for Reprogramming of Fibroblasts to Induced Pluripotent Stem Cells oleh Jason Ross, Julia Busch, Ellen Mintz, Damian Ng, Alexandra Stanley, David Brafman, V. Reid Sutton, Ignatia Van den Veyver, Karl Willert

    Diterbitkan 2014-12-01
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  8. 8
    Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen

    Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen oleh Bonnie McCann-Crosby, Mark C. Liang, Mitchell E. Geffner, Christina M. Koppin, Nicole R. Fraga, V. Reid Sutton, Lefkothea P. Karaviti, Gagandeep Bhullar, Mimi S. Kim

    Diterbitkan 2023-09-01
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  9. 9
    Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study

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

    Diterbitkan 2019-01-01
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  10. 10
    The Role of Extracellular Vesicles as a Shared Disease Mechanism Contributing to Multimorbidity in Patients With COPD

    The Role of Extracellular Vesicles as a Shared Disease Mechanism Contributing to Multimorbidity in Patients With COPD oleh Laura V. Reid, C. Mirella Spalluto, C. Mirella Spalluto, Alastair Watson, Alastair Watson, Alastair Watson, Karl J. Staples, Karl J. Staples, Tom M. A. Wilkinson, Tom M. A. Wilkinson

    Diterbitkan 2021-12-01
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  11. 11
    A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia

    A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia oleh Simran Madan, Wei Liu, James T. Lu, V. Reid Sutton, Bryant Toth, Priscilla Joe, John R. Waterson, Richard A. Gibbs, Ignatia B. Van den Veyver, Edward J. Lammer, Philippe M. Campeau, Brendan H. Lee

    Diterbitkan 2017-09-01
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  12. 12
    Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency”

    Corrigendum to “Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency” oleh Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter

    Diterbitkan 2023-12-01
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  13. 13
    Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

    Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency oleh Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter

    Diterbitkan 2023-12-01
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  14. 14
    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum oleh Taraka R. Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa T. Emrick, Sarah H. Elsea

    Diterbitkan 2016-09-01
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  15. 15
    Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

    Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis oleh Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea

    Diterbitkan 2020-01-01
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  16. 16
    2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

    2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis oleh Adam D. Kennedy, Kirk L. Pappan, Taraka Donti, Mauricio R. Delgado, Marwan Shinawi, Toni S. Pearson, Seema R. Lalani, William J. Craigen, V. Reid Sutton, Anne M. Evans, Qin Sun, Lisa T. Emrick, Lisa T. Emrick, Sarah H. Elsea

    Diterbitkan 2019-05-01
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  17. 17
    Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

    Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks oleh Marsha Treadwell, Paul R. Harmatz, Barbara K. Burton, John J. Mitchell, Nicole Muschol, Simon A. Jones, Gregory M. Pastores, Heather A. Lau, Rebecca Sparkes, V. Reid Sutton, Bianca Meesen, Christine A. Haller, Adam J. Shaywitz, Jeffrey I. Gold

    Diterbitkan 2017-07-01
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  18. 18
    The impact of the Turkish population variome on the genomic architecture of rare disease traits

    The impact of the Turkish population variome on the genomic architecture of rare disease traits oleh Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski

    Diterbitkan 2024-01-01
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  19. 19
    A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta

    A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta oleh Jaskaran S Bains, Erin M Carter, Kate P Citron, Adele L Boskey, Jay R Shapiro, Robert D Steiner, Peter A Smith, Michael B Bober, Tracy Hart, David Cuthbertson, Jeff Krischer, Peter H Byers, Melanie Pepin, Michaela Durigova, Francis H Glorieux, Frank Rauch, Joseph M Sliepka, V Reid Sutton, Brendan Lee, Members of the BBD Consortium, Sandesh CS Nagamani, Cathleen L Raggio

    Diterbitkan 2019-05-01
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  20. 20
    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome oleh Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski

    Diterbitkan 2019-04-01
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