检索结果 - Pober, Barbara R.

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

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

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Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome 由 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 由 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 由 Lin, Angela E., Pober, Barbara R., Adatia, Ian

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

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Pulmonary Function and Emphysema in Williams-Beuren Syndrome 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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