Bibliotecas PUC-SP - Busca Integrada

The significance of isolated elevation of serum aminotransferases in infants and young children

od Bugeac, Nina, Pacht, Avi, Mandel, Hanna, Iancu, Theodore, Tamir, Ada, Srugo, Isaac, Shaoul, Ron
Wydane 2007

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

od Raas-Rothschild, Annick, Cormier-Daire, Valerie, Bao, Ming, Genin, Emmanuelle, Salomon, Remi, Brewer, Kevin, Zeigler, Marsha, Mandel, Hanna, Toth, Steve, Roe, Bruce, Munnich, Arnold, Canfield, William M.
Wydane 2000

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

od Magen, Daniella, Georgopoulos, Costa, Bross, Peter, Ang, Debbie, Segev, Yardena, Goldsher, Dorit, Nemirovski, Alexandra, Shahar, Eli, Ravid, Sarit, Luder, Anthony, Heno, Bayan, Gershoni-Baruch, Ruth, Skorecki, Karl, Mandel, Hanna
Wydane 2008

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

od Zeharia, Avraham, Shaag, Avraham, Pappo, Orit, Mager-Heckel, Anne-Marie, Saada, Ann, Beinat, Marine, Karicheva, Olga, Mandel, Hanna, Ofek, Noa, Segel, Reeval, Marom, Daphna, Rötig, Agnes, Tarassov, Ivan, Elpeleg, Orly
Wydane 2009

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ich...

od Sprecher, Eli, Ishida-Yamamoto, Akemi, Mizrahi-Koren, Mordechai, Rapaport, Debora, Goldsher, Dorit, Indelman, Margarita, Topaz, Orit, Chefetz, Ilana, Keren, Hanni, O’Brien, Timothy J., Bercovich, Dani, Shalev, Stavit, Geiger, Dan, Bergman, Reuven, Horowitz, Mia, Mandel, Hanna
Wydane 2005

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

od Tiranti, Valeria, D’Adamo, Pio, Briem, Egill, Ferrari, Gianfrancesco, Mineri, Rossana, Lamantea, Eleonora, Mandel, Hanna, Balestri, Paolo, Garcia-Silva, Maria-Teresa, Vollmer, Brigitte, Rinaldo, Piero, Hahn, Si Houn, Leonard, James, Rahman, Shamima, Dionisi-Vici, Carlo, Garavaglia, Barbara, Gasparini, Paolo, Zeviani, Massimo
Wydane 2004

Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

od Cullinane, Andrew R., Straatman-Iwanowska, Anna, Seo, Jeong K., Ko, Jae S., Song, Kyung S., Gizewska, Maria, Gruszfeld, Dariusz, Gliwicz, Dorota, Tuysuz, Beyhan, Erdemir, Gulin, Sougrat, Rachid, Wakabayashi, Yoshiyuki, Hinds, Rupert, Barnicoat, Angela, Mandel, Hanna, Chitayat, David, Fischler, Björn, Garcia-Cazorla, Angels, Knisely, A. S., Kelly, Deirdre A., Maher, Eamonn R., Gissen, Paul
Wydane 2009

The transcriptional activator PAX3-FKHR rescues the defects of Pax3 mutant mice but induces a myogenic gain-of-function phenotype with ligand-independent activation of Met signalin...

od Relaix, Frédéric, Polimeni, Mariarosa, Rocancourt, Didier, Ponzetto, Carola, Schäfer, Beat W., Buckingham, Margaret, Jafar-Nejad, Hamed, Acar, Melih, Nolo, Riitta, Lacin, Haluk, Pan, Hongling, Parkhurst, Susan M., Bellen, Hugo J., Lee, Laura A., Van Hoewyk, Douglas, Orr-Weaver, Terry L., Morteau, Olivier, Morham, Scott G., Sellon, Rance, Dieleman, Levinus A., Langenbach, Robert, Smithies, Oliver, Sartor, R. Balfour, Horiba, Mitsuru, Kadomatsu, Kenji, Nakamura, Eishin, Muramatsu, Hisako, Ikematsu, Shinya, Sakuma, Sadatoshi, Hayashi, Kenji, Yuzawa, Yukio, Matsuo, Seiichi, Kuzuya, Masafumi, Kaname, Tadashi, Hirai, Makoto, Saito, Hidehiko, Muramatsu, Takashi, Amrani, Abdelaziz, Verdaguer, Joan, Thiessen, Shari, Bou, Sonny, Santamaria, Pere, Rentenaar, Rob J., Gamadia, Laila E., van derHoek, Nicolette, van Diepen, Frank N.J., Boom, René, Weel, Jan F.L., Wertheim-van Dillen, Pauline M.E., van Lier, René A.W., ten Berge, Ineke J.M., Knowles, Joshua W., Reddick, Robert L., Jennette, J. Charles, Shesely, Edward G., Smithies, Oliver, Maeda, Nobuyo, Lien, Egil, Means, Terry K., Heine, Holger, Yoshimura, Atsutoshi, Kusumoto, Shoichi, Fukase, Koichi, Fenton, Matthew J., Oikawa, Masato, Qureshi, Nilofer, Monks, Brian, Finberg, Robert W., Ingalls, Robin R., Golenbock, Douglas T., Pace, Amy J., Lee, Eddie, Athirakul, Krairek, Coffman, Thomas M., O’Brien, Deborah A., Koller, Beverly H., Epstein, Eyal, Sela-Brown, Alin, Ringel, Israel, Kilav, Rachel, King, Stephen M., Benashski, Sharon E., Yisraeli, Joel K., Silver, Justin, Naveh-Many, Tally, Luo, Yi, Tall, Alan R., Twisk, Jaap, Gillian-Daniel, Donald L., Tebon, Angie, Wang, Lin, Barrett, P. Hugh R., Attie, Alan D., Blagosklonny, Mikhail V., Robey, Robert, Bates, Susan, Fojo, Tito, O’Doherty, Robert M., Jensen, Per B., Anderson, Paul, Jones, John G., Berman, Hal K., Kearney, Denise, Newgard, Christopher B., Tomasson, Michael H., Sternberg, David W., Williams, Ifor R., Carroll, Martin, Cain, Danielle, Aster, Jon C., Ilaria, Robert L., Etten, Richard A. Van, Gilliland, D. Gary, Raas-Rothschild, Annick, Cormier-Daire, Valerie, Bao, Ming, Genin, Emmanuelle, Salomon, Remi, Brewer, Kevin, Zeigler, Marsha, Mandel, Hanna, Toth, Steve, Roe, Bruce, Munnich, Arnold, Canfield, William M., Reynolds, John, Tam, Frederick W.K., Chandraker, Anil, Smith, Jennifer, Karkar, Ayman M., Cross, Jane, Peach, Robert, Sayegh, Mohamed H., Pusey, Charles D., Everett, Allen D., Lobe, David R., Matsumura, Martin E., Nakamura, Hideji, McNamara, Coleen A., McHugh, Kevin P., Hodivala-Dilke, Kairbaan, Zheng, Ming-Hao, Namba, Noriyuki, Lam, Jonathan, Novack, Deborah, Feng, Xu, Ross, F. Patrick, Hynes, Richard O., Teitelbaum, Steven L., Kero, Jukka, Poutanen, Matti, Zhang, Fu-Ping, Rahman, Nafis, McNicol, Anne Marie, Nilson, John H., Keri, Ruth A., Huhtaniemi, Ilpo T., Joutel, Anne, Andreux, Fréderic, Gaulis, Swann, Domenga, Valérie, Cecillon, Michaelle, Battail, Nicole, Piga, Nadia, Chapon, Françoise, Godfrain, Catherine, Tournier-Lasserve, Elisabeth, Bestor, Timothy H., Nicholls, Robert D., Üren, Deniz, Hwang, Hweung-Kon, Hara, Yoshinobu, Takeda, Kazuyo, Kawamoto, Sachiyo, Tullio, Antonella N., Yu, Zu-Xi, Ferrans, Victor J., Tresser, Nancy, Grinberg, Alexander, Preston, Yvette A., Adelstein, Robert S., Pear, Warren S., Caniggia, Isabella, Mostachfi, Homa, Winter, Jennifer, Gassmann, Max, Lye, Stephen J., Kuliszewski, Maciej, Post, Martin, Tycko, Benjamin, Yu, Shuhua, Gavrilova, Oksana, Chen, Hui, Lee, Randy, Liu, Jie, Pacak, Karel, Parlow, A.F., Quon, Michael J., Reitman, Marc L., Weinstein, Lee S., Kurihara, Noriyoshi, Reddy, Sakamuri V., Menaa, Cheikh, Anderson, Dirk, Roodman, G. David, McCaffrey, Timothy A., Fu, Chenzhong, Du, Baoheng, Eksinar, Sukru, Kent, K. Craig, Bush, Harry, Kreiger, Karl, Rosengart, Todd, Cybulsky, Myron I., Silverman, Eric S., Collins, Tucker, Cohen, Phin, Gardner, Frank H., Cohen, Phin, Gardner, Frank H., Vance, Vernon K., Reddy, William J., Nelson, Don H., Thorn, George W., Buse, Maria G., Roberts, Walter J., Buse, John, Lange, Ramon L., Hecht, Hans H., Farese, Robert V., Plager, John E., Grümer, Hanns-Dieter, Koblet, Hans, Woodard, Carol, Scott, James L., Gleason, William L., Braunwald, Eugene, Quie, Paul G., Wannamaker, Lewis W., Rector, Floyd C., Clapp, James R., Andres, Reubin, Baltzan, Marcel A., Cader, Gordon, Zierler, Kenneth L., Baltzan, Marcel A., Andres, Reubin, Cader, Gordon, Zierler, Kenneth L., Daly, Walter J., Bondurant, Stuart, Schoenfield, Leslie J., Bollman, Jesse L., Hoffman, Harry N., Lipkin, Martin, Quastler, Henry, Frohlich, Edward D., Scott, Jerry B., Dooley, Elmo S., Wilson, Jean D.
Wydane 2003