檢索結果 - Batish, Sat Dev

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot–Marie–Tooth disease 由 Gonzaga-Jauregui, Claudia, Zhang, Feng, Towne, Charles F., Batish, Sat Dev, Lupski, James R.

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The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans 由 Zhang, Feng, Khajavi, Mehrdad, Connolly, Anne M, Towne, Charles F, Batish, Sat Dev, Lupski, James R

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Sequence variation in the Fanconi anemia gene FAA 由 Levran, Orna, Erlich, Tamar, Magdalena, Neiva, Gregory, John J., Batish, Sat Dev, Verlander, Peter C., Auerbach, Arleen D.

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Novel MPZ mutations and congenital hypomyelinating neuropathy 由 McMillan, Hugh J., Santagata, Sandro, Shapiro, Frederic, Batish, Sat Dev, Couchon, Libby, Donnelly, Stephen, Kang, Peter B.

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Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia 由 Boone, Philip M., Liu, Pengfei, Zhang, Feng, Carvalho, Claudia M. B., Towne, Charles F., Batish, Sat Dev, Lupski, James R.

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Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes? 由 Majidi, Shideh, Fouts, Alexandra, Pyle, Laura, Chambers, Christina, Armstrong, Taylor, Wang, Zhenyuan, Batish, Sat Dev, Klingensmith, Georgeanna, Steck, Andrea K.

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Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells 由 Gregory, John J., Wagner, John E., Verlander, Peter C., Levran, Orna, Batish, Sat Dev, Eide, Cindy R., Steffenhagen, Amy, Hirsch, Betsy, Auerbach, Arleen D.

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Characteristics of maturity onset diabetes of the young in a large diabetes center 由 Chambers, Christina, Fouts, Alexandra, Dong, Fran, Colclough, Kevin, Wang, Zhenyuan, Batish, Sat Dev, Jaremko, Malgorzata, Ellard, Sian, Hattersley, Andrew T, Klingensmith, Georgeanna, Steck, Andrea K

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Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer 由 Berwick, Marianne, Satagopan, Jaya M., Ben-Porat, Leah, Carlson, Ann, Mah, Katherine, Henry, Rashida, Diotti, Raffaella, Milton, Kelly, Pujara, Kanan, Landers, Tom, Batish, Sat Dev, Morales, José, Schindler, Detlev, Hanenberg, Helmut, Hromas, Robert, Levran, Orna, Auerbach, Arleen D.

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Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability 由 Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.

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High-throughput mutational analysis of TOR1A in primary dystonia 由 Xiao, Jianfeng, Bastian, Robert W, Perlmutter, Joel S, Racette, Brad A, Tabbal, Samer D, Karimi, Morvarid, Paniello, Randal C, Blitzer, Andrew, Batish, Sat Dev, Wszolek, Zbigniew K, Uitti, Ryan J, Hedera, Peter, Simon, David K, Tarsy, Daniel, Truong, Daniel D, Frei, Karen P, Pfeiffer, Ronald F, Gong, Suzhen, Zhao, Yu, LeDoux, Mark S

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Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype 由 Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Berwick, Marianne, Callén, Elsa, Surrallés, Jordi, Casado, José A., Bueren, Juan, Dasí, Ángeles, Soulier, Jean, Gluckman, Eliane, Zwaan, C. Michel, van Spaendonk, Rosalina, Pals, Gerard, de Winter, Johan P., Joenje, Hans, Grompe, Markus, Auerbach, Arleen D., Hanenberg, Helmut, Schindler, Detlev

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The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles 由 Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, Lupski, James R.

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The Alzheimer’s Association external quality control program for cerebrospinal fluid biomarkers 由 Mattsson, Niklas, Andreasson, Ulf, Persson, Staffan, Arai, Hiroyuki, Batish, Sat Dev, Bernardini, Sergio, Bocchio-Chiavetto, Luisella, Blankenstein, Marinus A., Carrillo, Maria C., Chalbot, Sonia, Coart, Els, Chiasserini, Davide, Cutler, Neal, Dahlfors, Gunilla, Duller, Stefan, Fagan, Anne M., Forlenza, Orestes, Frisoni, Giovanni B., Galasko, Douglas, Galimberti, Daniela, Hampel, Harald, Handberg, Aase, Heneka, Michael T., Herskovits, Adrianna Z., Herukka, Sanna-Kaisa, Holtzman, David M., Humpel, Christian, Hyman, Bradley T., Iqbal, Khalid, Jucker, Mathias, Kaeser, Stephan A., Kaiser, Elmar, Kapaki, Elisabeth, Kidd, Daniel, Klivenyi, Peter, Knudsen, Cindy S., Kummer, Markus P., Lui, James, Lladó, Albert, Lewczuk, Piotr, Li, Qiao-Xin, Martins, Ralph, Masters, Colin, McAuliffe, John, Mercken, Marc, Moghekar, Abhay, Molinuevo, José Luis, Montine, Thomas J., Nowatzke, William, O’Brien, Richard, Otto, Markus, Paraskevas, George P., Parnetti, Lucilla, Petersen, Ronald C., Prvulovic, David, de Reus, Herman P. M., Rissman, Robert A., Scarpini, Elio, Stefani, Alessandro, Soininen, Hilkka, Schröder, Johannes, Shaw, Leslie M., Skinningsrud, Anders, Skrogstad, Brith, Spreer, Annette, Talib, Leda, Teunissen, Charlotte, Trojanowski, John Q., Tumani, Hayrettin, Umek, Robert M., Van Broeck, Bianca, Vanderstichele, Hugo, Vecsei, Laszlo, Verbeek, Marcel M., Windisch, Manfred, Zhang, Jing, Zetterberg, Henrik, Blennow, Kaj

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