Resultados de procura - Mendelsohn, Nancy

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders por 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) por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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) por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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