نتائج البحث - Pizzino, Amy

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants حسب Stellingwerff, Menno D., Nulton, Corinne, Helman, Guy, Roosendaal, Stefan D., Benko, William S., Pizzino, Amy, Bugiani, Marianna, Vanderver, Adeline, Simons, Cas, van der Knaap, Marjo S.

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Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the U.S. Surgeon General’s My Family Health Portrait حسب Feero, W. Gregory, Facio, Flavia M., Glogowski, Emily A., Hampel, Heather L., Stopfer, Jill E., Eidem, Haley, Pizzino, Amy M., Barton, David K., Biesecker, Leslie G.

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DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder حسب Wolf, Nicole I., Toro, Camilo, Kister, Ilya, Latif, Kartikasalwah Abd, Leventer, Richard, Pizzino, Amy, Simons, Cas, Abbink, Truus E.M., Taft, Ryan J., van der Knaap, Marjo S., Vanderver, Adeline

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Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis حسب Conant, Alexander, Curiel, Julian, Pizzino, Amy, Sabetrasekh, Parisa, Murphy, Jennifer, Bloom, Miriam, Evans, Sarah H., Helman, Guy, Taft, Ryan J., Simons, Cas, Whitehead, Matthew T., Moore, Steven A., Vanderver, Adeline

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Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy حسب Pizzino, Amy, Whitehead, Matthew, Rasekh, Parisa Sabet, Murphy, Jennifer, Helman, Guy, Bloom, Miriam, Evans, Sarah H., Murnick, John G., Conry, Joan, Taft, Ryan J., Simons, Cas, Vanderver, Adeline, Adang, Laura A.

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A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies حسب Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., Patterson, Marc C., Taft, Ryan J., Vanderver, Adeline

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TUBB4A de novo mutations cause isolated hypomyelination حسب Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, Vanderver, Adeline

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Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect حسب Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L.P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming, Vanderver, Adeline

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Phenotypic and imaging spectrum associated with WDR45 حسب Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline

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Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy حسب Helman, Guy, Zerem, Ayelet, Almad, Akshata, Hacker, Julia L., Woidill, Sarah, Sase, Sunetra, LeFevre, Alexandra N., Ekstein, Josef, Johansson, Martin M., Stutterd, Chloe A., Taft, Ryan J., Simons, Cas, Grinspan, Judith B., Pizzino, Amy, Schmidt, Johanna L., Harding, Brian, Hirsch, Yoel, Viaene, Angela N., Fattal-Valevski, Aviva, Vanderver, Adeline

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations حسب Wolf, Nicole I., Vanderver, Adeline, van Spaendonk, Rosalina M.L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S., Bernard, Geneviève

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Disease Specific Therapies in Leukodystrophies and Leukoencephalopathies حسب Helman, Guy, Van Haren, Keith, Bonkowsky, Joshua L., Bernard, Genevieve, Pizzino, Amy, Braverman, Nancy, Suhr, Dean, Patterson, Marc C., Fatemi, S. Ali, Leonard, Jeff, van der Knaap, Marjo S, Back, Stephen A., Damiani, Stephen, Goldman, Steven A., Takanohashi, Asako, Petryniak, Magdalena, Rowitch, David, Messing, Albee, Wrabetz, Lawrence, Schiffmann, Raphael, Eichler, Florian, Escolar, Maria L., Vanderver, Adeline

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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome حسب Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B., Jaffe, Nicole, Yum, Sabrina W., Collins, Abigail, Keller, Stephanie R., Lebon, Pierre, Meritet, Jean-François, Rhee, Jullie, Takanohashi, Asako, Armangue, Thais, Ulrick, Nicole, Sherbini, Omar, Koh, Jamie, Peer, Kyle, Besnier, Constance, Scher, Carly, Boyle, Katherine, Dubbs, Holly, Kramer-Golinkoff, Julia, Pizzino, Amy, Woidill, Sarah, Shults, Justine

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Whole exome sequencing in patients with white matter abnormalities حسب Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Geneviève, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Kelin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer LP., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S., Taft, Ryan J.

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Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders حسب Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser-Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.

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X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1 حسب Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline

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Genome sequencing in persistently unsolved white matter disorders حسب Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, van der Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies حسب Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, Leslie, Jaffe, Nicole, Joseph, Christopher, Karpinski, Mary, Keller, Stephanie, Maddock, Ryan, Mancilla, Edna, McClary, Bruce, Mertz, Jana, Morgart, Kiley, Langan, Thomas, Leventer, Richard, Parikh, Sumit, Pizzino, Amy, Prange, Erin, Renaud, Deborah L., Rizzo, William, Shapiro, Jay, Suhr, Dean, Suhr, Teryn, Tonduti, Davide, Waggoner, Jacque, Waldman, Amy, Wolf, Nicole I., Zerem, Ayelet, Bonkowsky, Joshua L., Bernard, Genevieve, van Haren, Keith, Vanderver, Adeline

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation حسب Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, Ikegawa, Shiro

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C حسب Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K, Mirchi, Amytice, Saikali, Stephan, Tran, Luan T, Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M L, Naidu, Sakkubai, Pohl, Daniela, Gibson, William T, Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L, Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L, Catsman-Berrevoets, Coriene, Pinto, Pedro S, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S, Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M, Innes, A Micheil, Kauffman, Marcelo, Kirwin, Susan M, Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I, Moutton, Sebastien, Murphy, Raymond P J, Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie-France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R, Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K, Stevens, Cathy A, Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P, Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I, Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S, Vanderver, Adeline, Martos-Moreno, Gabriel Á, Polychronakos, Constantin, Wolf, Nicole I, Bernard, Geneviève

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