Kết quả tìm kiếm - Knaus, Alexej

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report Bằng Danyel, Magdalena, Suk, Eun Kyung, Raile, Vera, Gellermann, Jutta, Knaus, Alexej, Horn, Denise

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A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia Bằng Türkmen, Seval, Spielmann, Malte, Güneş, Nilay, Knaus, Alexej, Flöttmann, Ricarda, Mundlos, Stefan, Tüysüz, Beyhan

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Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function Bằng Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars

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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia Bằng Neuhofer, Christiane M., Funke, Rudolf, Wilken, Bernd, Knaus, Alexej, Altmüller, Janine, Nürnberg, Peter, Li, Yun, Wollnik, Bernd, Burfeind, Peter, Pauli, Silke

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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy Bằng Krenn, Martin, Knaus, Alexej, Westphal, Dominik S., Wortmann, Saskia B., Polster, Tilman, Woermann, Friedrich G., Karenfort, Michael, Mayatepek, Ertan, Meitinger, Thomas, Wagner, Matias, Distelmaier, Felix

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Occurrence of a paroxysmal nocturnal hemoglobinuria clone in an essential thrombocythemia: a link between PIGV and MPL Bằng Knaus, Alexej, Vergez, François, Garcia, Cédric, Engels, Hartmut, Hundertmark, Hela, Ribes, David, Largeaud, Laetitia, Tavitian, Suzanne, Payrastre, Bernard, Krawitz, Peter, Faguer, Stanislas, Ribes, Agnes

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Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies Bằng Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.

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VarFish: comprehensive DNA variant analysis for diagnostics and research Bằng Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, Björn, Boschann, Felix, Scholl, Ute, Ehmke, Nadja, Beule, Dieter

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Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation Bằng Holtgrewe, Manuel, Knaus, Alexej, Hildebrand, Gabriele, Pantel, Jean-Tori, Santos, Miguel Rodriguez de los, Neveling, Kornelia, Goldmann, Jakob, Schubach, Max, Jäger, Marten, Coutelier, Marie, Mundlos, Stefan, Beule, Dieter, Sperling, Karl, Krawitz, Peter Michael

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TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19 Bằng Schmidt, Axel, Peters, Sophia, Knaus, Alexej, Sabir, Hemmen, Hamsen, Frauke, Maj, Carlo, Fazaal, Julia, Sivalingam, Sugirthan, Savchenko, Oleksandr, Mantri, Aakash, Holzinger, Dirk, Neudorf, Ulrich, Müller, Andreas, Ludwig, Kerstin U., Krawitz, Peter M., Engels, Hartmut, Nöthen, Markus M., Bagci, Soyhan

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CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph Bằng Peng, Chengyao, Dieck, Simon, Schmid, Alexander, Ahmad, Ashar, Knaus, Alexej, Wenzel, Maren, Mehnert, Laura, Zirn, Birgit, Haack, Tobias, Ossowski, Stephan, Wagner, Matias, Brunet, Theresa, Ehmke, Nadja, Danyel, Magdalena, Rosnev, Stanislav, Kamphans, Tom, Nadav, Guy, Fleischer, Nicole, Fröhlich, Holger, Krawitz, Peter

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome Bằng Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu‐Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.

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Complement and inflammasome overactivation mediates paroxysmal nocturnal hemoglobinuria with autoinflammation Bằng Höchsmann, Britta, Murakami, Yoshiko, Osato, Makiko, Knaus, Alexej, Kawamoto, Michi, Inoue, Norimitsu, Hirata, Tetsuya, Murata, Shogo, Anliker, Markus, Eggermann, Thomas, Jäger, Marten, Floettmann, Ricarda, Höllein, Alexander, Murase, Sho, Ueda, Yasutaka, Nishimura, Jun-ichi, Kanakura, Yuzuru, Kohara, Nobuo, Schrezenmeier, Hubert, Krawitz, Peter M., Kinoshita, Taroh

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Induction of Rosette-to-Lumen stage embryoids using reprogramming paradigms in ESCs Bằng Langkabel, Jan, Horne, Arik, Bonaguro, Lorenzo, Holsten, Lisa, Hesse, Tatiana, Knaus, Alexej, Riedel, Yannick, Becker, Matthias, Händler, Kristian, Elmzzahi, Tarek, Bassler, Kevin, Reusch, Nico, Yeghiazarian, Leon Harootoonovtch, Pecht, Tal, Saglam, Adem, Ulas, Thomas, Aschenbrenner, Anna C., Kaiser, Franziska, Kubaczka, Caroline, Schultze, Joachim L., Schorle, Hubert

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Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome Bằng Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan

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A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions Bằng Rodríguez de los Santos, Miguel, Rivalan, Marion, David, Friederike S., Stumpf, Alexander, Pitsch, Julika, Tsortouktzidis, Despina, Velasquez, Laura Moreno, Voigt, Anne, Schilling, Karl, Mattei, Daniele, Long, Melissa, Vogt, Guido, Knaus, Alexej, Fischer-Zirnsak, Björn, Wittler, Lars, Timmermann, Bernd, Robinson, Peter N., Horn, Denise, Mundlos, Stefan, Kornak, Uwe, Becker, Albert J., Schmitz, Dietmar, Winter, York, Krawitz, Peter M.

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Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis Bằng Knaus, Alexej, Pantel, Jean Tori, Pendziwiat, Manuela, Hajjir, Nurulhuda, Zhao, Max, Hsieh, Tzung-Chien, Schubach, Max, Gurovich, Yaron, Fleischer, Nicole, Jäger, Marten, Köhler, Sebastian, Muhle, Hiltrud, Korff, Christian, Møller, Rikke S., Bayat, Allan, Calvas, Patrick, Chassaing, Nicolas, Warren, Hannah, Skinner, Steven, Louie, Raymond, Evers, Christina, Bohn, Marc, Christen, Hans-Jürgen, van den Born, Myrthe, Obersztyn, Ewa, Charzewska, Agnieszka, Endziniene, Milda, Kortüm, Fanny, Brown, Natasha, Robinson, Peter N., Schelhaas, Helenius J., Weber, Yvonne, Helbig, Ingo, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases Bằng Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

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GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors Bằng Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian, Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter

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PEDIA: prioritization of exome data by image analysis Bằng Hsieh, Tzung-Chien, Mensah, Martin A., Pantel, Jean T., Aguilar, Dione, Bar, Omri, Bayat, Allan, Becerra-Solano, Luis, Bentzen, Heidi B., Biskup, Saskia, Borisov, Oleg, Braaten, Oivind, Ciaccio, Claudia, Coutelier, Marie, Cremer, Kirsten, Danyel, Magdalena, Daschkey, Svenja, Eden, Hilda David, Devriendt, Koenraad, Wilson, Sandra, Douzgou, Sofia, Đukić, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Björn, Fleischer, Nicole, Gabriel, Heinz, Graul-Neumann, Luitgard, Gripp, Karen W., Gurovich, Yaron, Gusina, Asya, Haddad, Nechama, Hajjir, Nurulhuda, Hanani, Yair, Hertzberg, Jakob, Hoertnagel, Konstanze, Howell, Janelle, Ivanovski, Ivan, Kaindl, Angela, Kamphans, Tom, Kamphausen, Susanne, Karimov, Catherine, Kathom, Hadil, Keryan, Anna, Knaus, Alexej, Köhler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J., Mangold, Elisabeth, Reina, Purificación Marín, Carrascal, Antonio Martinez, Mitter, Diana, Herrador, Laura Morlan, Nadav, Guy, Nöthen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Pölsler, Laura, Raas-Rothschild, Annick, Randolph, Linda, Revencu, Nicole, Fagerberg, Christina Ringmann, Robinson, Peter Nick, Rosnev, Stanislav, Rudnik, Sabine, Rudolf, Gorazd, Schatz, Ulrich, Schossig, Anna, Schubach, Max, Shanoon, Or, Sheridan, Eamonn, Smirin-Yosef, Pola, Spielmann, Malte, Suk, Eun-Kyung, Sznajer, Yves, Thiel, Christian T., Thiel, Gundula, Verloes, Alain, Vrecar, Irena, Wahl, Dagmar, Weber, Ingrid, Winter, Korina, Wiśniewska, Marzena, Wollnik, Bernd, Yeung, Ming W., Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M.

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