Resultats de la cerca - Pober, Barbara R.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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