Farber lipogranulomatosis: An unusual presentation in a black child von Eviatar, Lydia, Sklower, Susan L., Wisniewski, Krystyna, Feldman, Robert S., Gochoco, Aurora

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Acid α-glucosidase deficiency in cultured fibroblasts with phenotype 2 of acid α-glucosidase von Beratis, Nicholas G., Wilbur, Lorraine, Sklower, Susan L.

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Distal duplication 14q: report of three cases and further delineation of the syndrome von SKLOWER, S. L, JENKINS, E. C, TED BROWN, W, NOLIN, S. L, DUNCAN, C. J, WARBURTON, D, ANYANE YEBOA, K, MERKREBS, A, SCHWARTZ, R, WISNIEWSKI, K, STIMSON, C

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Variability of thymidylate synthase activity in whole blood cultures treated with FUdR von Sklower, Susan L., Jenkins, Edmund C., Anderson, Melba L., Chan, Colin B., Brown, W. Ted, Opitz, John M., Reynolds, James F.

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Oligosaccharyl diphosphodolichols in the ceroid-lipofuscinoses von Pullarkat, Raju K., Kim, K. S., Sklower, Susan L., Patel, Vimal K., Opitz, John M., Reynolds, James F.

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SV40-transformed fragile (X) amniocytes von Jenkins, Edmund C., Brooks, Steven E., Stark-Houck, Sandra L., Duncan, Charlotte J., Brooks, Susan L. Sklower, Brown, W. Ted

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia von Huang, Yue, Sharma, Rajesh, Feigenbaum, Annette, Lee, Chung, Sahai, Inderneel, Sanchez Russo, Rossana, Neira, Juanita, Brooks, Susan Sklower, Jackson, Kelly E., Wong, Derek, Cederbaum, Stephen, Lacbawan, Felicitas L., Rowland, Charles M., Tanpaiboon, Pranoot, Salazar, Denise

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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series von Yachelevich, Naomi, Gittler, Julia Klein, Klugman, Susan, Feldman, Barbara, Martin, Joanna, Brooks, Susan Sklower, Dobkin, Carl, Nolin, Sarah L.

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Telomere shortening in T lymphocytes of older individuals with Down syndrome and dementia von Jenkins, Edmund C., Velinov, Milen T., Ye, Lingling, Gu, Hong, Li, Shuyun, Jenkins, Edmund C., Brooks, Susan Sklower, Pang, Deborah, Devenny, Darlynne A., Zigman, Warren B., Schupf, Nicole, Silverman, Wayne P.

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New mutations in the RAB3GAP1 gene in patients with Warburg MICRO Syndrome and a possible founder effect in the Danish population von Morris-Rosendahl, Deborah J, Segel, Reeval, Born, A. Peter, Conrad, Christoph, Loeys, Bart L., Sklower Brooks, Susan, Müller, Laura, Zeschnigk, Christine, Botti, Christina, Rabinowitz, Ron, Uyanik, Gökhan, Crocq, Marc-Antoine, Kraus, Uwe, Degen, Ingrid, Faes, Fran

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The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type II von Becker, Jeffrey A., Vlach, John, Raben, Nina, Nagaraju, Kanneboyina, Adams, Elizabeth M., Hermans, Monique M., Reuser, Arnold J.J., Brooks, Susan Sklower, Tifft, Cynthia J., Hirschhorn, Rochelle, Huie, Maryann L., Nicolino, Marc, Plotz, Paul H.

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Molecular screening of Batten disease : identification of a missense mutation (E295K) in the CLN3 gene von ZHONG, N, WISNIEWSKI, K. E, BROWN, W. T, KACZMARSKI, A. L, JU, W, WEI MIN XU, XU, W. W, MCLENDON, L, LIU, B, KACZMARSKI, W, BROOKS, S. S

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Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis von NAN ZHONG, WISNIEWSKI, K. E, HARTIKAINEN, J, WEINA JU, MOROZIEWICZ, D. N, MCLENDON, L, BROOKS, S. S, BROWN, W. T

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Mitotic index in down's syndrome with and without dementia von Jenkins, Edmund C., Ye, Lingling, Li, Shuyun, Zigman, Warren B., Schupf, Nicole, Sersen, Eugene A., Zhong, Nan, Miezejeski, Charles M., Brooks, Susan Sklower, Silverman, Wayne P.

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A common mutation site in the β-galactosidase gene originates in Puerto Rico von Chin, Nan-Chan, Qian, Wei-Hua, Shanske, Alan L., Brooks, Susan Sklower, Boustany, Rose-Mary

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Terminal deletions of the long arm of chromosome X that include the FMR1 gene in female patients: A case series von Yachelevich, Naomi, Gittler, Julia Klein, Klugman, Susan, Feldman, Barbara, Martin, Joanna, Brooks, Susan Sklower, Dobkin, Carl, Nolin, Sarah L.

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Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations von Wallerstein, Robert J, Brooks, Susan Sklower, Streck, Deanna L, Kurvathi, Rohini, Toruner, Gokce A

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On the association of fragile X with autism von Wolf-Schein, E G, Jenkins, E C, Sklower, S, Cohen, I L, Wisniewski, K E, Brown, W T

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Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome von Brill, C B, Rose, J S, Godmilow, L, Sklower, S, Willner, J, Hirschhorn, K

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Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors von Berliner, Janice L., Shapiro, Faye N., Nolin, Sarah L., Houck, George E., Ding, Xiao‐Hua, Dobkin, Carl, Brooks, Susan Sklower, Brown, W. Ted

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