Rezultati - VAN RYZIN, CAROL
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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 od Chen, Wuyan, Xu, Zhi, Nishitani, Miki, Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Izdano 2012Text -
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Incentive processing in Congenital Adrenal Hyperplasia (CAH): a reward-based antisaccade study od Mueller, Sven C., Daniele, Teresa, MacIntyre, Jessica, Korelitz, Katherine, Carlisi, Christina, Hardin, Michael G., VanRyzin, Carol, Merke, Deborah P., Ernst, Monique
Izdano 2012Text -
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Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency od Finkielstain, Gabriela P., Chen, Wuyan, Mehta, Sneha P., Fujimura, Frank K., Hanna, Reem M., Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Izdano 2011Text -
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Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia od 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.
Izdano 2012Text -
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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... od 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.
Izdano 2009Text -
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Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families od Nandagopal, Radha, Sinaii, Ninet, Avila, Nilo A, Van Ryzin, Carol, Chen, Wuyan, Finkielstain, Gabriela P, Mehta, Sneha P, McDonnel, Nazli B, Merke, Deborah P
Izdano 2011Text -
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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 od 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.
Izdano 2012Text -
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Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia od 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.
Izdano 2013Text -
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DIFFERENTIATING MOEBIUS SYNDROME AND OTHER CONGENITAL FACIAL WEAKNESS DISORDERS WITH ELECTRODIAGNOSTIC STUDIES od 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
Izdano 2021Text -
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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 od 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.
Izdano 2015Text -
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Chronic Kidney Disease in Propionic Acidemia od 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.
Izdano 2019Text -
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Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry od 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
Izdano 2020Text -
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Severity modeling of propionic acidemia using clinical and laboratory biomarkers od 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.
Izdano 2021Text -
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Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene od 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.
Izdano 2022Text