Výsledky vyhledávání - Stoler, Joan

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about Autor Karaa, Amel, Stoler, Joan M.

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Updating the neurodevelopmental profile of Alazami syndrome: illustrating the role of developmental assessment in rare genetic disorders Autor Wojcik, Monica H, Linnea, Kate, Stoler, Joan M, Rappaport, Leonard

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Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder Autor Dauber, Andrew, Stoler, Joan, Hechter, Eliana, Safer, Jason, Hirschhorn, Joel N

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Biomarkers of Alcohol Use in Pregnancy Autor Bearer, Cynthia F., Stoler, Joan M., Cook, Janine D., Carpenter, Siri J.

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Redefining the Progeroid Form of Ehlers-Danlos Syndrome: Report of the Fourth Patient with B4GALT7 Deficiency and Review of the Literature Autor Guo, Michael H., Stoler, Joan, Lui, Julian, Nilsson, Ola, Bianchi, Diana W., Hirschhorn, Joel N., Dauber, Andrew

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FOXE3 plays a significant role in autosomal recessive microphthalmia Autor Reis, Linda M., Tyler, Rebecca C., Schneider, Adele, Bardakjian, Tanya, Stoler, Joan M., Melancon, Serge B., Semina, Elena V.

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Pulmonary Vasculopathy Associated with FIGF Gene Mutation Autor Bailey, Evan, Cui, Ye, Casey, Alicia, Stoler, Joan M., Ai, Xingbin, Ma, Dongdong, Handin, Robert, Sliz, Piotr, Vargas, Sara O., El-Chemaly, Souheil Y.

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ALX4 gain-of-function mutations in non-syndromic craniosynostosis Autor Yagnik, Garima, Ghuman, Apar, Kim, Sundon, Stevens, Cristina G., Kimonis, Virginia, Stoler, Joan, Sanchez-Lara, Pedro, Bernstein, Jonathan, Naydenov, Cyril, Drissi, Hicham, Cunningham, Michael L., Kim, Jinoh, Boyadjiev, Simeon A.

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Novel Loss-of-Function Variants in DIAPH1 Associated With Syndromic Microcephaly, Blindness, and Early Onset Seizures Autor Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler, Joan M.

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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield Autor Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts, Amy E, Shen, Yiping

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A Functional Mutation in the Terminal Exon of Elastin in Severe, Early-Onset Chronic Obstructive Pulmonary Disease Autor Kelleher, Cassandra M., Silverman, Edwin K., Broekelmann, Thomas, Litonjua, Augusto A., Hernandez, Melvin, Sylvia, Jody S., Stoler, Joan, Reilly, John J., Chapman, Harold A., Speizer, Frank E., Weiss, Scott T., Mecham, Robert P., Raby, Benjamin A.

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Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans Autor Hills, L. Benjamin, Masri, Amira, Konno, Kotaro, Kakegawa, Wataru, Lam, Anh-Thu N., Lim-Melia, Elizabeth, Chandy, Nandini, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Nasir, Ramzi, Stoler, Joan M., Barkovich, A. James, Watanabe, Masahiko, Yuzaki, Michisuke, Mochida, Ganeshwaran H.

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Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield Autor Gubbels, Cynthia S., VanNoy, Grace E., Madden, Jill A., Copenheaver, Deborah, Yang, Sandra, Wojcik, Monica H., Gold, Nina B., Genetti, Casie A., Stoler, Joan, Parad, Richard B., Roumiantsev, Sergei, Bodamer, Olaf, Beggs, Alan H., Juusola, Jane, Agrawal, Pankaj B., Yu, Timothy W.

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay Autor Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination Autor Nakayama, Tojo, Al-Maawali, Almundher, El-Quessny, Malak, Rajab, Anna, Khalil, Samir, Stoler, Joan M., Tan, Wen-Hann, Nasir, Ramzi, Schmitz-Abe, Klaus, Hill, R. Sean, Partlow, Jennifer N., Al-Saffar, Muna, Servattalab, Sarah, LaCoursiere, Christopher M., Tambunan, Dimira E., Coulter, Michael E., Elhosary, Princess C., Gorski, Grzegorz, Barkovich, A. James, Markianos, Kyriacos, Poduri, Annapurna, Mochida, Ganeshwaran H.

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Yield of Whole Exome Sequencing in Undiagnosed Patients Facing Insurance Coverage Barriers to Genetic Testing Autor Reuter, Chloe M., Kohler, Jennefer N., Bonner, Devon, Zastrow, Diane, Fernandez, Liliana, Dries, Annika, Marwaha, Shruti, Davidson, Jean, Brokamp, Elly, Herzog, Matthew, Hong, Joyce, Macnamara, Ellen, Rosenfeld, Jill A., Schoch, Kelly, Spillmann, Rebecca, Loscalzo, Joseph, Krier, Joel, Stoler, Joan, Sweetser, David, Palmer, Christina G.S., Phillips, John A, Shashi, Vandana, Adams, David A., Yang, Yaping, Ashley, Euan A., Fisher, Paul G., Mulvihill, John J., Bernstein, Jonathan A., Wheeler, Matthew T.

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders Autor Miller, David T., Shen, Yiping, Weiss, Lauren A., Korn, Joshua, Anselm, Irina, Bridgemohan, Carolyn, Cox, Gerald F., Dickinson, Hope, Gentile, Jennifer, Harris, David J., Hegde, Vijay, Hundley, Rachel, Khwaja, Omar, Kothare, Sanjeev, Luedke, Christina, Nasir, Ramzi, Poduri, Annapurna, Prasad, Kiran, Raffalli, Peter, Reinhard, Ann, Smith, Sharon E., Sobeih, Magdi M., Soul, Janet S., Stoler, Joan, Takeoka, Masanori, Tan, Wen-Hann, Thakuria, Joseph, Wolff, Robert, Yusupov, Roman, Gusella, James F., Daly, Mark J., Wu, Bai-Lin

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects Autor Duncan, Anna R., Vitobello, Antonio, Collins, Stephan C., Vancollie, Valerie E., Lelliott, Christopher J., Rodan, Lance, Shi, Jiahai, Seman, Ann R., Agolini, Emanuele, Novelli, Antonio, Prontera, Paolo, Guillen Sacoto, Maria J., Santiago-Sim, Teresa, Trimouille, Aurélien, Goizet, Cyril, Nizon, Mathilde, Bruel, Ange-Line, Philippe, Christophe, Grant, Patricia E., Wojcik, Monica H., Stoler, Joan, Genetti, Casie A., van Dooren, Marieke F., Maas, Saskia M., Alders, Marielle, Faivre, Laurence, Sorlin, Arthur, Yoon, Grace, Yalcin, Binnaz, Agrawal, Pankaj B.

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 Autor Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Stoler, Joan M., Postlethwait, John H., Wangler, Michael F., Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, Bellen, Hugo J.

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Deletions of NRXN1 (Neurexin-1) Predispose to a Wide Spectrum of Developmental Disorders Autor Ching, Michael SL, Shen, Yiping, Tan, Wen-Hann, Jeste, Shafali S, Morrow, Eric M, Chen, Xiaoli, Mukaddes, Nahit M, Yoo, Seung-Yun, Hanson, Ellen, Hundley, Rachel, Austin, Christina, Becker, Ronald E, Berry, Gerard T, Driscoll, Katherine, Engle, Elizabeth C, Friedman, Sandra, Gusella, James F, Hisama, Fuki M, Irons, Mira B, Lafiosca, Tina, LeClair, Elaine, Miller, David T, Neessen, Michael, Picker, Jonathan D, Rappaport, Leonard, Rooney, Cynthia M, Sarco, Dean P, Stoler, Joan M, Walsh, Christopher A, Wolff, Robert R, Zhang, Ting, Nasir, Ramzi H, Wu, Bai-Lin

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