Výsledky vyhledávání - Mendelsohn, Nancy

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders Autor Schaefer, G. Bradley, Mendelsohn, Nancy J.

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Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) Autor Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella

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LG-55 CASE REPORT OF AN OPTIC PATHWAY GLIOMA IN A PATIENT WITH LEGIUS SYNDROME Autor Skrypek, Mary, Bendel, Anne, Kebriaei, Meysam, Mendelsohn, Nancy, Wein, Amy, Hansen, Melissa, Siqveland, Elizabeth, Listernick, Robert

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Genotype differences in cognitive functioning in Noonan syndrome Autor Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Seidenberg, Mark S.

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Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses Autor Mendelsohn, Nancy J., Wood, Timothy, Olson, Rebecca A., Temme, Renee, Hale, Susan, Zhang, Haoyue, Read, Lisa, White, Klane K.

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Ocular and Histologic Findings in a Series of Children with Infantile Pompe Disease Treated with Enzyme Replacement Therapy Autor Prakalapakorn, S. Grace, Proia, Alan D., Yanovitch, Tammy L., DeArmey, Stephanie, Mendelsohn, Nancy J., Aleck, Kyrieckos A., Kishnani, Priya S.

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Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome Autor Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Rauen, Katherine A., Seidenberg, Mark S.

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The Language Phenotype of Children and Adolescents With Noonan Syndrome Autor Pierpont, Elizabeth I., Weismer, Susan Ellis, Roberts, Amy E., Tworog-Dube, Erica, Pierpont, Mary Ella, Mendelsohn, Nancy J., Seidenberg, Mark S.

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Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series Autor Lampe, Christina, Bosserhoff, Ann-Kathrin, Burton, Barbara K., Giugliani, Roberto, de Souza, Carolina F., Bittar, Camila, Muschol, Nicole, Olson, Rebecca, Mendelsohn, Nancy J.

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Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations Autor Aldinger, Kimberly A., Mendelsohn, Nancy J., Chung, Brian H.Y., Zhang, Wenjuan, Cohn, Daniel H., Fernandez, Bridget, Alkuraya, Fowzan S., Dobyns, William B., Curry, Cynthia J.

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Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment Autor Hendriksz, Christian J., Muenzer, Joseph, Vanderver, Adeline, Davis, Jonathan M., Burton, Barbara K., Mendelsohn, Nancy J., Wang, Nan, Pan, Luying, Pano, Arian, Barbier, Ann J.

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Clinical and genetic characteristics for the Urofacial Syndrome (UFS) Autor Tu, Yaqin, Yang, Ping, Yang, Jia, Xu, Yuchen, Xiong, Fei, Yu, Qilin, Gu, Weikuan, Pond, Dinel, Mendelsohn, Nancy, Lachmeijer, Guus AMA, Zhang, Shu, Wang, Cong-Yi

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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose Autor Lachman, Ralph S., Burton, Barbara K., Clarke, Lorne A., Hoffinger, Scott, Ikegawa, Shiro, Jin, Dong-Kyu, Kano, Hiroki, Kim, Ok-Hwa, Lampe, Christina, Mendelsohn, Nancy J., Shediac, Renée, Tanpaiboon, Pranoot, White, Klane K.

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Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age Autor Lampe, Christina, Atherton, Andrea, Burton, Barbara K., Descartes, Maria, Giugliani, Roberto, Horovitz, Dafne D. G., Kyosen, Sandra O., Magalhães, Tatiana S. P. C., Martins, Ana Maria, Mendelsohn, Nancy J., Muenzer, Joseph, Smith, Laurie D.

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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease Autor Messinger, Yoav H., Mendelsohn, Nancy J., Rhead, William, Dimmock, David, Hershkovitz, Eli, Champion, Michael, Jones, Simon A., Olson, Rebecca, White, Amy, Wells, Cara, Bali, Deeksha, Case, Laura E., Young, Sarah P., Rosenberg, Amy S., Kishnani, Priya S.

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Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry Autor Muenzer, Joseph, Jones, Simon A., Tylki-Szymańska, Anna, Harmatz, Paul, Mendelsohn, Nancy J., Guffon, Nathalie, Giugliani, Roberto, Burton, Barbara K., Scarpa, Maurizio, Beck, Michael, Jangelind, Yvonne, Hernberg-Stahl, Elizabeth, Larsen, Maria Paabøl, Pulles, Tom, Whiteman, David A. H.

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WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta Autor Pyott, Shawna M., Tran, Thao T., Leistritz, Dru F., Pepin, Melanie G., Mendelsohn, Nancy J., Temme, Renee T., Fernandez, Bridget A., Elsayed, Solaf M., Elsobky, Ezzat, Verma, Ishwar, Nair, Sreelata, Turner, Emily H., Smith, Joshua D., Jarvik, Gail P., Byers, Peter H.

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Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease Autor Kazi, Zoheb B., Desai, Ankit K., Berrier, Kathryn L., Troxler, R. Bradley, Wang, Raymond Y., Abdul-Rahman, Omar A., Tanpaiboon, Pranoot, Mendelsohn, Nancy J., Herskovitz, Eli, Kronn, David, Inbar-Feigenberg, Michal, Ward-Melver, Catherine, Polan, Michelle, Gupta, Punita, Rosenberg, Amy S., Kishnani, Priya S.

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Genetic Testing for Dilated Cardiomyopathy in Clinical Practice Autor Lakdawala, Neal K., Funke, Birgit H., Baxter, Samantha, Cirino, Allison L., Roberts, Amy E., Judge, Daniel P., Johnson, Nicole, Mendelsohn, Nancy J., Morel, Chantal, Care, Melanie, Chung, Wendy K., Jones, Carolyn, Psychogios, Apostolos, Duffy, Elizabeth, Rehm, Heidi L., White, Emily, Seidman, J.G., Seidman, Christine E., Ho, Carolyn Y.

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Overcoming the barriers to diagnosis of Morquio A syndrome Autor Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei

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