檢索結果 - Benet-Pagès, Anna

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery 由 Eck, Sebastian H, Benet-Pagès, Anna, Flisikowski, Krzysztof, Meitinger, Thomas, Fries, Ruedi, Strom, Tim M

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Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome 由 Arnold, Anke Marie, Morak, Monika, Benet-Pagès, Anna, Laner, Andreas, Frishman, Dimitrij, Holinski-Feder, Elke

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Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome 由 Hallermayr, Ariane, Graf, Janine, Koehler, Udo, Laner, Andreas, Schönfeld, Brigitte, Benet‐Pagès, Anna, Holinski‐Feder, Elke

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Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes 由 Diebold, Isabel, Schön, Ulrike, Scharf, Florentine, Benet‐Pagès, Anna, Laner, Andreas, Holinski‐Feder, Elke, Abicht, Angela

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Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method 由 Abicht, Angela, Scharf, Florentine, Kleinle, Stephanie, Schön, Ulrike, Holinski‐Feder, Elke, Horvath, Rita, Benet‐Pagès, Anna, Diebold, Isabel

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CpG-Methylation Regulates a Class of Epstein-Barr Virus Promoters 由 Bergbauer, Martin, Kalla, Markus, Schmeinck, Anne, Göbel, Christine, Rothbauer, Ulrich, Eck, Sebastian, Benet-Pagès, Anna, Strom, Tim M., Hammerschmidt, Wolfgang

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HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death 由 Schön, Ulrike, Holzer, Anna, Laner, Andreas, Kleinle, Stephanie, Scharf, Florentine, Benet-Pagès, Anna, Peschel, Oliver, Holinski-Feder, Elke, Diebold, Isabel

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Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage 由 Jansen, Sandra, Aigner, Bernhard, Pausch, Hubert, Wysocki, Michal, Eck, Sebastian, Benet-Pagès, Anna, Graf, Elisabeth, Wieland, Thomas, Strom, Tim M, Meitinger, Thomas, Fries, Ruedi

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Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 由 Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.

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Variant Interpretation: UCSC Genome Browser Recommended Track Sets 由 Benet-Pagès, Anna, Rosenbloom, Kate R, Nassar, Luis R, Lee, Christopher M, Raney, Brian J, Clawson, Hiram, Schmelter, Daniel, Casper, Jonathan, Gonzalez, Jairo Navarro, Perez, Gerardo, Lee, Brian T, Zweig, Ann S, Kent, W James, Haeussler, Maximillian, Kuhn, Robert M

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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis 由 Lorenz-Depiereux, Bettina, Bastepe, Murat, Benet-Pagès, Anna, Amyere, Mustapha, Wagenstaller, Janine, Müller-Barth, Ursula, Badenhoop, Klaus, Kaiser, Stephanie M, Rittmaster, Roger S, Shlossberg, Alan H, Olivares, José L, Loris, César, Ramos, Feliciano J, Glorieux, Francis, Vikkula, Miikka, Jüppner, Harald, Strom, Tim M

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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer 由 Rump, Andreas, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavičius, Ramūnas, Macháčková, Eva, Foretová, Lenka, Kleibl, Zdenek, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schröck, Evelin, Klink, Barbara

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The UCSC Genome Browser database: 2021 update 由 Navarro Gonzalez, Jairo, Zweig, Ann S, Speir, Matthew L, Schmelter, Daniel, Rosenbloom, Kate R, Raney, Brian J, Powell, Conner C, Nassar, Luis R, Maulding, Nathan D, Lee, Christopher M, Lee, Brian T, Hinrichs, Angie S, Fyfe, Alastair C, Fernandes, Jason D, Diekhans, Mark, Clawson, Hiram, Casper, Jonathan, Benet-Pagès, Anna, Barber, Galt P, Haussler, David, Kuhn, Robert M, Haeussler, Maximilian, Kent, W James

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The UCSC Genome Browser database: 2022 update 由 Lee, Brian T, Barber, Galt P, Benet-Pagès, Anna, Casper, Jonathan, Clawson, Hiram, Diekhans, Mark, Fischer, Clay, Gonzalez, Jairo Navarro, Hinrichs, Angie S, Lee, Christopher M, Muthuraman, Pranav, Nassar, Luis R, Nguy, Beagan, Pereira, Tiana, Perez, Gerardo, Raney, Brian J, Rosenbloom, Kate R, Schmelter, Daniel, Speir, Matthew L, Wick, Brittney D, Zweig, Ann S, Haussler, David, Kuhn, Robert M, Haeussler, Maximilian, Kent, W James

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A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease 由 Zimprich, Alexander, Benet-Pagès, Anna, Struhal, Walter, Graf, Elisabeth, Eck, Sebastian H., Offman, Marc N., Haubenberger, Dietrich, Spielberger, Sabine, Schulte, Eva C., Lichtner, Peter, Rossle, Shaila C., Klopp, Norman, Wolf, Elisabeth, Seppi, Klaus, Pirker, Walter, Presslauer, Stefan, Mollenhauer, Brit, Katzenschlager, Regina, Foki, Thomas, Hotzy, Christoph, Reinthaler, Eva, Harutyunyan, Ashot, Kralovics, Robert, Peters, Annette, Zimprich, Fritz, Brücke, Thomas, Poewe, Werner, Auff, Eduard, Trenkwalder, Claudia, Rost, Burkhard, Ransmayr, Gerhard, Winkelmann, Juliane, Meitinger, Thomas, Strom, Tim M.

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