Search Results - Benke, Paul J.

Gout and hyperuricemia by Benke, Paul J.

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Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis by Benke, Paul J., Herrick, Norma, Hebert, Annette

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Mutations in SLC5A6 associated with brain, immune, bone and intestinal dysfunction in a young child by Subramanian, Veedamali S., Constantinescu, Alexandru R., Benke, Paul J., Said, Hamid M.

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Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies by Su, Meng, Benke, Paul J., Bademci, Guney, Cengiz, Filiz Basak, Ouyang, Xiaomei, Peng, Jinghong, Casas, Carmen E., Tekin, Mustafa, Fan, Yao-Shan

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Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype by Collins, Stephen C., Coffee, Brad, Benke, Paul J., Berry-Kravis, Elizabeth, Gilbert, Fred, Oostra, Ben, Halley, Dicky, Zwick, Michael E., Cutler, David J., Warren, Stephen T.

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Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds by Yang, Jie, Wang, Shih-Kai, Choi, Murim, Reid, Bryan M, Hu, Yuanyuan, Lee, Yuan-Ling, Herzog, Curtis R, Kim-Berman, Hera, Lee, Moses, Benke, Paul J, Kent Lloyd, K C, Simmer, James P, Hu, Jan C-C

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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes by Simon, Mariella T, Eftekharian, Shaya S, Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.

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Analyses of oligodontia phenotypes and genetic etiologies by Zhou, Mengqi, Zhang, Hong, Camhi, Heather, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Kim, Jung-Wook, Kim-Berman, Hera, Yuson, Ninna M. R., Benke, Paul J., Wu, Yiqun, Wang, Feng, Zhu, Yaqin, Simmer, James P., Hu, Jan C-C.

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Correction: Analyses of oligodontia phenotypes and genetic etiologies by Zhou, Mengqi, Zhang, Hong, Camhi, Heather, Seymen, Figen, Koruyucu, Mine, Kasimoglu, Yelda, Kim, Jung-Wook, Kim-Berman, Hera, Yuson, Ninna M. R., Benke, Paul J., Wu, Yiqun, Wang, Feng, Zhu, Yaqin, Simmer, James P., Hu, Jan C-C.

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability by Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas

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De novo variants in MPP5 cause global developmental delay and behavioral changes by Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboosingh, Jillian S, Lamont, Ryan E, Bernier, Francois P, Smith, Christopher, Harris, David J, Stegmann, Alexander P A, Innes, A Micheil, Kim, Seonhee, Agrawal, Pankaj B

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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 by 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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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms by Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F., Wei, Angela, Elliott, Kathryn, Goodloe, Dana H., Dean, S. Joy, Gooch, Catherine, Murray, Brianna K., Swartz, Erin, Schrier Vergano, Samantha A., Towne, Meghan C., Nugent, Kimberly, Roeder, Elizabeth R., Kresge, Christina, Pletcher, Beth A., Grand, Katheryn, Graham, John M., Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J., Cohen, Julie S., Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Agrawal, Pankaj B., Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A., Tauber, Kate A., Azova, Svetlana, Smith, Jessica R., O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N., Arboleda, Valerie A.

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Reanalysis of Clinical Exome Sequencing Data by Liu, Pengfei, Meng, Linyan, Normand, Elizabeth A., Xia, Fan, Song, Xiaofei, Ghazi, Andrew, Rosenfeld, Jill, Magoulas, Pilar L., Braxton, Alicia, Ward, Patricia, Dai, Hongzheng, Yuan, Bo, Bi, Weimin, Xiao, Rui, Wang, Xia, Chiang, Theodore, Vetrini, Francesco, He, Weimin, Cheng, Hanyin, Dong, Jie, Gijavanekar, Charul, Benke, Paul J., Bernstein, Jonathan A., Eble, Tanya, Eroglu, Yasemen, Erwin, Deanna, Escobar, Luis, Gibson, James B., Gripp, Karen W., Kleppe, Soledad, Koenig, Mary Kay, Lewis, Andrea M., Natowicz, Marvin, Mancias, Pedro, Minor, LaKeesha, Scaglia, Fernando, Schaaf, Christian P., Streff, Haley, Vernon, Hilary, Uhles, Crescenda L, Zackai, Elaine H., Wu, Nan, Sutton, V. Reid, Beaudet, Arthur L., Muzny, Donna, Gibbs, Richard A., Posey, Jennifer E., Lalani, Seema, Shaw, Chad, Eng, Christine M., Lupski, James R., Yang, Yaping

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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders by Mannucci, Ilaria, Dang, Nghi D. P., Huber, Hannes, Murry, Jaclyn B., Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J., Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A., Braathen, Geir Julius, Busk, Øyvind L., Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F., Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A., Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W., Brenman, Leslie Manace, Martinez-Agosto, Julian A., Might, Matthew, Miller, David T., Minks, Kelly Q., Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F., Parant, John M., Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F., Schuurs-Hoeijmakers, Janneke, Shieh, Perry B., Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander P. A., Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H., Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, Lessel, Davor

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies by Hamdan, Fadi F., Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Schneider, Amy, Hollingsworth, Georgie, FitzPatrick, David R., Donaldson, Alan, Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Chung, Wendy K., Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Jones, Dean, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Lalani, Seema R., Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.

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