Arama Sonuçları - Mendelsohn, Nancy J.
- Gösterilen 1 - 20 sonuçlar arası kayıtlar. 21
- Sonraki Sayfaya Git
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1
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders Yazar: Schaefer, G. Bradley, Mendelsohn, Nancy J.
Baskı/Yayın Bilgisi 2008Metin -
2
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) Yazar: Ficicioglu, Can, Giugliani, Roberto, Harmatz, Paul, Mendelsohn, Nancy J., Jego, Virginie, Parini, Rossella
Baskı/Yayın Bilgisi 2017Metin -
3
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4
Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses Yazar: Mendelsohn, Nancy J., Wood, Timothy, Olson, Rebecca A., Temme, Renee, Hale, Susan, Zhang, Haoyue, Read, Lisa, White, Klane K.
Baskı/Yayın Bilgisi 2013Metin -
5
Ocular and Histologic Findings in a Series of Children with Infantile Pompe Disease Treated with Enzyme Replacement Therapy Yazar: Prakalapakorn, S. Grace, Proia, Alan D., Yanovitch, Tammy L., DeArmey, Stephanie, Mendelsohn, Nancy J., Aleck, Kyrieckos A., Kishnani, Priya S.
Baskı/Yayın Bilgisi 2014Metin -
6
Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome Yazar: Pierpont, Elizabeth I., Pierpont, Mary Ella, Mendelsohn, Nancy J., Roberts, Amy E., Tworog-Dube, Erica, Rauen, Katherine A., Seidenberg, Mark S.
Baskı/Yayın Bilgisi 2010Metin -
7
The Language Phenotype of Children and Adolescents With Noonan Syndrome Yazar: Pierpont, Elizabeth I., Weismer, Susan Ellis, Roberts, Amy E., Tworog-Dube, Erica, Pierpont, Mary Ella, Mendelsohn, Nancy J., Seidenberg, Mark S.
Baskı/Yayın Bilgisi 2010Metin -
8
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series Yazar: Lampe, Christina, Bosserhoff, Ann-Kathrin, Burton, Barbara K., Giugliani, Roberto, de Souza, Carolina F., Bittar, Camila, Muschol, Nicole, Olson, Rebecca, Mendelsohn, Nancy J.
Baskı/Yayın Bilgisi 2014Metin -
9
Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations Yazar: 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.
Baskı/Yayın Bilgisi 2015Metin -
10
Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment Yazar: 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.
Baskı/Yayın Bilgisi 2015Metin -
11
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose Yazar: 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.
Baskı/Yayın Bilgisi 2014Metin -
12
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age Yazar: 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.
Baskı/Yayın Bilgisi 2014Metin -
13
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease Yazar: 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.
Baskı/Yayın Bilgisi 2012Metin -
14
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry Yazar: 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.
Baskı/Yayın Bilgisi 2017Metin -
15
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta Yazar: 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.
Baskı/Yayın Bilgisi 2013Metin -
16
Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease Yazar: 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.
Baskı/Yayın Bilgisi 2017Metin -
17
Genetic Testing for Dilated Cardiomyopathy in Clinical Practice Yazar: 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.
Baskı/Yayın Bilgisi 2012Metin -
18
Overcoming the barriers to diagnosis of Morquio A syndrome Yazar: 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
Baskı/Yayın Bilgisi 2014Metin -
19
MKS1 regulates ciliary INPP5E levels in Joubert syndrome Yazar: 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
Baskı/Yayın Bilgisi 2015Metin -
20
Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations Yazar: 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.
Baskı/Yayın Bilgisi 2005Metin