Search Results - Pober, Barbara R.

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  1. 1
    Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

    Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH by Pober, Barbara R.

    Published 2007
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  2. 2
    Congenital Diaphragmatic Hernia and Pulmonary Hypoplasia: New Insights From Developmental Biology and Genetics

    Congenital Diaphragmatic Hernia and Pulmonary Hypoplasia: New Insights From Developmental Biology and Genetics by Ackerman, Kate G., Pober, Barbara R.

    Published 2007
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  3. 3
    Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

    Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome by Pober, Barbara R., Johnson, Mark, Urban, Zsolt

    Published 2008
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  4. 4
    A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis

    A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis by Pober, Barbara R., Longoni, Mauro, Noonan, Kristin M.

    Published 2009
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  5. 5
    Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management

    Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management by Lin, Angela E., Pober, Barbara R., Adatia, Ian

    Published 2007
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  6. 6
    Growth, Body Composition, and Endocrine Issues in Williams Syndrome

    Growth, Body Composition, and Endocrine Issues in Williams Syndrome by Stanley, Takara L., Leong, Aaron, Pober, Barbara R.

    Published 2021
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  7. 7
    Pulmonary Function and Emphysema in Williams-Beuren Syndrome

    Pulmonary Function and Emphysema in Williams-Beuren Syndrome by Wan, Emily S., Pober, Barbara R., Washko, George, Raby, Benjamin A., Silverman, Edwin K.

    Published 2010
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  8. 8
    Altered Body Composition, Lipedema, and Decreased Bone Density in Individuals with Williams Syndrome: A Preliminary Report

    Altered Body Composition, Lipedema, and Decreased Bone Density in Individuals with Williams Syndrome: A Preliminary Report by Waxler, Jessica L., Guardino, Cara, Feinn, Richard S., Lee, Hang, Pober, Barbara R., Stanley, Takara L.

    Published 2017
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  9. 9
    Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

    Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia by Chen, Haijun, von Hehn, Christian, Kaczmarek, Leonard K., Ment, Laura R., Pober, Barbara R., Hisama, Fuki M.

    Published 2006
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  10. 10
    Glucose and Lipid Metabolism, Bone Density, and Body Composition in Individuals with Williams Syndrome

    Glucose and Lipid Metabolism, Bone Density, and Body Composition in Individuals with Williams Syndrome by Shaikh, Sofia, Waxler, Jessica L., Lee, Hang, Grinke, Kathy, Garry, Jamie, Pober, Barbara R., Stanley, Takara L.

    Published 2018
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  11. 11
    Congenital Diaphragmatic Defects: Proposal for a New Classification Based on Observations in 234 Patients

    Congenital Diaphragmatic Defects: Proposal for a New Classification Based on Observations in 234 Patients by Ackerman, Kate G., Vargas, Sara O., Wilson, Jay A., Jennings, Russell W., Kozakewich, Harry P.W., Pober, Barbara R.

    Published 2012
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  12. 12
    A New Diagnosis of Williams-Beuren Syndrome in a 49-year-old Man with Severe Bullous Emphysema

    A New Diagnosis of Williams-Beuren Syndrome in a 49-year-old Man with Severe Bullous Emphysema by Wojcik, Monica H, Carmichael, Nikkola, Bieber, Frederick R, Wiener, Daniel C, Madan, Rachna, Pober, Barbara R, Raby, Benjamin A

    Published 2017
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  13. 13
    Maternal Periconceptional Exposure to Cigarette Smoking and Alcohol Consumption and Congenital Diaphragmatic Hernia

    Maternal Periconceptional Exposure to Cigarette Smoking and Alcohol Consumption and Congenital Diaphragmatic Hernia by Caspers, Kristin M., Oltean, Cristiana, Romitti, Paul A., Sun, Lixian, Pober, Barbara R., Rasmussen, Sonja A., Yang, Wei, Druschel, Charlotte

    Published 2010
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  14. 14
    Deletions of Xp Provide Evidence for the Role of Holocytochrome C-Type Synthase (HCCS) in Congenital Diaphragmatic Hernia

    Deletions of Xp Provide Evidence for the Role of Holocytochrome C-Type Synthase (HCCS) in Congenital Diaphragmatic Hernia by Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.

    Published 2010
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  15. 15
    Skin Findings in Williams Syndrome

    Skin Findings in Williams Syndrome by Kozel, Beth A., Bayliss, Susan J., Berk, David R., Waxler, Jessica L, Knutsen, Russell H., Danback, Joshua R., Pober, Barbara R.

    Published 2014
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  16. 16
    High Prevalence of Diabetes and Pre-Diabetes in Adults With Williams Syndrome

    High Prevalence of Diabetes and Pre-Diabetes in Adults With Williams Syndrome by Pober, Barbara R., Wang, Erica T., Caprio, Sonia, Petersen, Kitt F., Brandt, Cynthia, Stanley, Takara L., Osborne, Lucy R., Dziura, James, Gulanski, Barbara

    Published 2010
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  17. 17
    Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome

    Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome by Lugo, Michael, Wong, Zoë C., Billington, Charles J., Parrish, Phoebe C. R., Muldoon, Glennis, Liu, Delong, Pober, Barbara R., Kozel, Beth A.

    Published 2020
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  18. 18
    WILLIAMS SYNDROME PREDISPOSES TO VASCULAR STIFFNESS MODIFIED BY ANTI-HYPERTENSIVE USE AND COPY NUMBER CHANGES IN NCF1

    WILLIAMS SYNDROME PREDISPOSES TO VASCULAR STIFFNESS MODIFIED BY ANTI-HYPERTENSIVE USE AND COPY NUMBER CHANGES IN NCF1 by Kozel, Beth A., Danback, Joshua, Waxler, Jessica, Knutsen, Russell H., Fuentes, Lisa de las, Reusz, Gyorgy S., Kis, Eva, Bhatt, Ami, Pober, Barbara R

    Published 2013
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  19. 19
    Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome

    Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome by Anglani, Franca, Terrin, Liliana, Brugnara, Milena, Battista, Michele, Cantaluppi, Vincenzo, Ceol, Monica, Bertoldi, Loris, Valle, Giorgio, Joy, Maliackal P., Pober, Barbara R, Longoni, Mauro

    Published 2018
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  20. 20
    Infants With Bochdalek Diaphragmatic Hernia: Sibling Precurrence and Monozygotic Twin Discordance in a Hospital-Based Malformation Surveillance Program

    Infants With Bochdalek Diaphragmatic Hernia: Sibling Precurrence and Monozygotic Twin Discordance in a Hospital-Based Malformation Surveillance Program by Pober, Barbara R., Lin, Angela, Russell, Meaghan, Ackerman, Kate G., Chakravorty, Sharmila, Strauss, Bernarda, Westgate, Marie Noel, Wilson, Jay, Donahoe, Patricia K., Holmes, Lewis B.

    Published 2005
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