Risultati della ricerca - Mendelsohn, Nancy J

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders di 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) di Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella

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Genotype differences in cognitive functioning in Noonan syndrome di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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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Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose di 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 di 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 di 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 di 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 di 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 di 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 di 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 di 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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MKS1 regulates ciliary INPP5E levels in Joubert syndrome di Slaats, Gisela G., Isabella, Christine R., Kroes, Hester Y., Dempsey, Jennifer C., Gremmels, Hendrik, Monroe, Glen R., Phelps, Ian G., Duran, Karen J., Adkins, Jonathan, Kumar, Sairam A., Knutzen, Dana M., Knoers, Nine V., Mendelsohn, Nancy J., Neubauer, David, Mastroyianni, Sotiria D., Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A., Parisi, Melissa A., Otto, Edgar A., Johnson, Colin A., Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H., Doherty, Dan

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Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations di Johnston, Jennifer J., Olivos-Glander, Isabelle, Killoran, Christina, Elson, Emma, Turner, Joyce T., Peters, Kathryn F., Abbott, Margaret H., Aughton, David J., Aylsworth, Arthur S., Bamshad, Michael J., Booth, Carol, Curry, Cynthia J., David, Albert, Dinulos, Mary Beth, Flannery, David B., Fox, Michelle A., Graham, John M., Grange, Dorothy K., Guttmacher, Alan E., Hannibal, Mark C., Henn, Wolfram, Hennekam, Raoul C. M., Holmes, Lewis B., Hoyme, H. Eugene, Leppig, Kathleen A., Lin, Angela E., MacLeod, Patrick, Manchester, David K., Marcelis, Carlo, Mazzanti, Laura, McCann, Emma, McDonald, Marie T., Mendelsohn, Nancy J., Moeschler, John B., Moghaddam, Billur, Neri, Giovanni, Newbury-Ecob, Ruth, Pagon, Roberta A., Phillips, John A., Sadler, Laurie S., Stoler, Joan M., Tilstra, David, Walsh Vockley, Catherine M., Zackai, Elaine H., Zadeh, Touran M., Brueton, Louise, Black, Graeme Charles M., Biesecker, Leslie G.

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