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Published in Nature genetics (01.01.2010)
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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
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Published in American journal of human genetics (01.02.2007)
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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
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Published in PloS one (09.12.2016)
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The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation
Chrzanowska, Krystyna H., Seemanova, Eva, Varon, Raymonda, Digweed, Martin, Piekutowska‐Abramczuk, Dorota, Sperling, Karl, Seeman, Pavel
Published in Cancer reports (01.02.2023)
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Prevalence of Mutations in AGPAT2 Among Human Lipodystrophies
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Published in Diabetes (New York, N.Y.) (01.06.2003)
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Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects
Kessler, Kristin, Wunderlich, Ina, Uebe, Steffen, Falk, Nathalie S, Gießl, Andreas, Brandstätter, Johann Helmut, Popp, Bernt, Klinger, Patricia, Ekici, Arif B, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Roepman, Ronald, Seemanová, Eva, Thiel, Christian T
Published in Scientific reports (01.07.2015)
Published in Scientific reports (01.07.2015)
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Cancer Risk of Heterozygotes With the NBN Founder Mutation
Seemanová, Eva, Jarolim, Petr, Seeman, Pavel, Varon, Raymonda, Digweed, Martin, Swift, Michael, Sperling, Karl
Published in JNCI : Journal of the National Cancer Institute (19.12.2007)
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DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS
BARTSCH, Oliver, SCHMIDT, Stefanie, RICHTER, Marion, MORLOT, Susanne, SEEMANOVA, Eva, WIEBE, Glenis, RASI, Sasan
Published in Human genetics (01.09.2005)
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An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
Abdollahpour, Hengameh, Alawi, Malik, Kortüm, Fanny, Beckstette, Michael, Seemanova, Eva, Komárek, Vladimír, Rosenberger, Georg, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.02.2015)
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Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome
Habib, Raneem, Kim, Ryong, Neitzel, Heidemarie, Demuth, Ilja, Chrzanowska, Krystyna, Seemanova, Eva, Faber, Renaldo, Digweed, Martin, Voss, Reinhard, Jäger, Kathrin, Sperling, Karl, Walter, Michael
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Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism
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Published in Nature genetics (01.07.2000)
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
Cordeddu, Viviana, Yin, Jiani C., Gunnarsson, Cecilia, Virtanen, Carl, Drunat, Séverine, Lepri, Francesca, De Luca, Alessandro, Rossi, Cesare, Ciolfi, Andrea, Pugh, Trevor J., Bruselles, Alessandro, Priest, James R., Pennacchio, Len A., Lu, Zhibin, Danesh, Arnavaz, Quevedo, Rene, Hamid, Alaa, Martinelli, Simone, Pantaleoni, Francesca, Gnazzo, Maria, Daniele, Paola, Lissewski, Christina, Bocchinfuso, Gianfranco, Stella, Lorenzo, Odent, Sylvie, Philip, Nicole, Faivre, Laurence, Vlckova, Marketa, Seemanova, Eva, Digilio, Cristina, Zenker, Martin, Zampino, Giuseppe, Verloes, Alain, Dallapiccola, Bruno, Roberts, Amy E., Cavé, Hélène, Gelb, Bruce D., Neel, Benjamin G., Tartaglia, Marco
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H + -ATPase subunit ATP6V0A2
Rajab, Anna, van Bokhoven, Hans, Foulquier, Francois, Gruenewald, Stephanie, Lefeber, Dirk, Van Maldergem, Lionel, Morava, Eva, Reynders, Ellen, Urban, Zsolt, Wevers, Ron, Mundlos, Stefan, Annaert, Wim, Nürnberg, Peter, Kornak, Uwe, Dimopoulou, Aikaterini, van Reeuwijk, Jeroen, Fischer, Bjoern, Budde, Birgit, Brunner, Han G, Matthijs, Gert
Published in Nature genetics (01.01.2008)
Published in Nature genetics (01.01.2008)
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Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
Handley, Mark T., Morris-Rosendahl, Deborah J., Brown, Stephen, Macdonald, Fiona, Hardy, Carol, Bem, Danai, Carpanini, Sarah M., Borck, Guntram, Martorell, Loreto, Izzi, Claudia, Faravelli, Francesca, Accorsi, Patrizia, Pinelli, Lorenzo, Basel-Vanagaite, Lina, Peretz, Gabriela, Abdel-Salam, Ghada M.H., Zaki, Maha S., Jansen, Anna, Mowat, David, Glass, Ian, Stewart, Helen, Mancini, Grazia, Lederer, Damien, Roscioli, Tony, Giuliano, Fabienne, Plomp, Astrid S., Rolfs, Arndt, Graham, John M., Seemanova, Eva, Poo, Pilar, García-Cazorla, Àngels, Edery, Patrick, Jackson, Ian J., Maher, Eamonn R., Aligianis, Irene A.
Published in Human mutation (01.05.2013)
Published in Human mutation (01.05.2013)
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Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence
Koudova, Monika, Seemanova, Eva, Zenker, Martin
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome
BARTSCH, Oliver, RASI, Sasan, DELICADO, Alicia, DYACK, Sarah, NEUMANN, Luitgard M, SEEMANOVA, Eva, VOLLETH, Marianne, HAAF, Thomas, KALSCHEUER, Vera M
Published in Human genetics (01.09.2006)
Published in Human genetics (01.09.2006)
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Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations
Seeman, Tomáš, Seemanová, Eva, Nuernberg, Gudrun, Nuernberg, Peter, Janssen, Sabine, Otto, Edgar A.
Published in Pediatric nephrology (Berlin, West) (01.11.2010)
Published in Pediatric nephrology (Berlin, West) (01.11.2010)
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Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8
Drabova, Jana, Seemanova, Eva, Hancarova, Miroslava, Pourova, Radka, Horacek, Martin, Jancuskova, Tereza, Pekova, Sona, Novotna, Drahuse, Sedlacek, Zdenek
Published in American journal of medical genetics. Part A (01.04.2015)
Published in American journal of medical genetics. Part A (01.04.2015)
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