Výsledky vyhledávání - VAN RYZIN, CAROL

Hypoglycemia during acute illness in children with classic congenital adrenal hyperplasia Autor Keil, Margaret F., Bosmans, Charlotte, Van Ryzin, Carol, Merke, Deborah P.

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Complement Component 4 Copy Number Variation and CYP21A2 Genotype Associations in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Autor Chen, Wuyan, Xu, Zhi, Nishitani, Miki, Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.

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Increased medial temporal lobe and striatal grey-matter volume in a rare disorder of androgen excess: a voxel-based morphometry (VBM) study Autor Mueller, Sven C., Merke, Deborah P., Leschek, Ellen W., Fromm, Steven, VanRyzin, Carol, Ernst, Monique

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The Phenotypic Spectrum of Contiguous Deletion of CYP21A2 and Tenascin XB: Quadricuspid Aortic Valve and Other Midline Defects Autor Chen, Wuyan, Kim, Mimi S., Shanbhag, Sujata, Arai, Andrew, VanRyzin, Carol, McDonnell, Nazli B., Merke, Deborah P.

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Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency Autor Chen, Wuyan, Xu, Zhi, Sullivan, Annie, Finkielstain, Gabriela P., Van Ryzin, Carol, Merke, Deborah P., McDonnell, Nazli B.

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Grey matter volume correlates with virtual water maze task performance in boys with androgen excess Autor Mueller, Sven C., Merke, Deborah P., Leschek, Ellen W., Fromm, Stephen, Grillon, Christian, Cornwell, Brian R., VanRyzin, Carol, Ernst, Monique

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Psychiatric characterization of children with genetic causes of hyperandrogenism Autor Mueller, Sven C, Ng, Pamela, Sinaii, Ninet, Leschek, Ellen W, Green-Golan, Liza, VanRyzin, Carol, Ernst, Monique, Merke, Deborah P

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Incentive processing in Congenital Adrenal Hyperplasia (CAH): a reward-based antisaccade study Autor Mueller, Sven C., Daniele, Teresa, MacIntyre, Jessica, Korelitz, Katherine, Carlisi, Christina, Hardin, Michael G., VanRyzin, Carol, Merke, Deborah P., Ernst, Monique

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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Autor Finkielstain, Gabriela P., Chen, Wuyan, Mehta, Sneha P., Fujimura, Frank K., Hanna, Reem M., Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.

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Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia Autor Finkielstain, Gabriela P., Kim, Mimi S., Sinaii, Ninet, Nishitani, Miki, Van Ryzin, Carol, Hill, Suvimol C., Reynolds, James C., Hanna, Reem M., Merke, Deborah P.

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A Pharmacokinetic and Pharmacodynamic Study of Delayed- and Extended-Release Hydrocortisone (Chronocort™) versus Conventional Hydrocortisone (Cortef™) in the Treatment of Congenita... Autor Verma, Somya, VanRyzin, Carol, Sinaii, Ninet, Kim, Mimi S., Nieman, Lynnette K., Ravindran, Shayna, Calis, Karim A., Arlt, Wiebke, Ross, Richard J., Merke, Deborah P.

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Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families Autor Nandagopal, Radha, Sinaii, Ninet, Avila, Nilo A, Van Ryzin, Carol, Chen, Wuyan, Finkielstain, Gabriela P, Mehta, Sneha P, McDonnel, Nazli B, Merke, Deborah P

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Use of PET/CT with Cosyntropin Stimulation to Identify and Localize Adrenal Rest Tissue following Adrenalectomy in a Woman with Congenital Adrenal Hyperplasia Autor Crocker, Melissa K., Barak, Stephanie, Millo, Corina M., Beall, Stephanie A., Niyyati, Mahtab, Chang, Richard, Avila, Nilo A., Van Ryzin, Carol, Segars, James, Quezado, Martha, Merke, Deborah P.

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Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia Autor Merke, Deborah P., Chen, Wuyan, Morissette, Rachel, Xu, Zhi, Van Ryzin, Carol, Sachdev, Vandana, Hannoush, Hwaida, Shanbhag, Sujata M., Acevedo, Ana T., Nishitani, Miki, Arai, Andrew E., McDonnell, Nazli B.

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DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES Autor LEHKY, TANYA, JOSEPH, REVERSA, TORO, CAMILO, WU, TIANXIA, VAN RYZIN, CAROL, GROPMAN, ANDREA, FACIO, FLAVIA M., WEBB, BRYN D., JABS, ETHYLIN WANG, BARRY, BRENDA S., ENGLE, ELIZABETH C., COLLINS, FRANCIS S., MANOLI, IRINI

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A Phase 2 Study of Chronocort, a Modified-Release Formulation of Hydrocortisone, in the Treatment of Adults With Classic Congenital Adrenal Hyperplasia Autor Mallappa, Ashwini, Sinaii, Ninet, Kumar, Parag, Whitaker, Martin J., Daley, Lori-Ann, Digweed, Dena, Eckland, David J. A., Van Ryzin, Carol, Nieman, Lynnette K., Arlt, Wiebke, Ross, Richard J., Merke, Deborah P.

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Chronic Kidney Disease in Propionic Acidemia Autor Shchelochkov, Oleg A., Manoli, Irini, Sloan, Jennifer L., Ferry, Susan, Pass, Alexandra, Van Ryzin, Carol, Myles, Jennifer, Schoenfeld, Megan, McGuire, Peter, Rosing, Douglas R., Levin, Mark D., Kopp, Jeffrey B., Venditti, Charles P.

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Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry Autor Sadeghi, Neda, Hutchinson, Elizabeth, Van Ryzin, Carol, FitzGibbon, Edmond J, Butman, John A, Webb, Bryn D, Facio, Flavia, Brooks, Brian P, Collins, Francis S, Jabs, Ethylin Wang, Engle, Elizabeth C, Manoli, Irini, Pierpaoli, Carlo

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Severity modeling of propionic acidemia using clinical and laboratory biomarkers Autor Shchelochkov, Oleg A., Manoli, Irini, Juneau, Paul, Sloan, Jennifer L., Ferry, Susan, Myles, Jennifer, Schoenfeld, Megan, Pass, Alexandra, McCoy, Samantha, Van Ryzin, Carol, Wenger, Olivia, Levin, Mark, Zein, Wadih, Huryn, Laryssa, Snow, Joseph, Chlebowski, Colby, Thurm, Audrey, Kopp, Jeffrey B., Chen, Kong Y., Venditti, Charles P.

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Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene Autor Pangilinan, Faith, Watkins, David, Bernard, David, Chen, Yue, Dong, Ningzheng, Wu, Qingyu, Ozel-Abaan, Hatice, Kaur, Manjit, Caggana, Michele, Morrissey, Mark, Browne, Marilyn L., Mills, James L., Van Ryzin, Carol, Shchelochkov, Oleg, Sloan, Jennifer, Venditti, Charles P., Sarafoglou, Kyriakie, Rosenblatt, David S., Kay, Denise M., Brody, Lawrence C.

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