Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations
Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco
Published in European journal of human genetics : EJHG (01.04.2022)
Published in European journal of human genetics : EJHG (01.04.2022)
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Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case
Pfeifer, Mateja, Rehder, Helga, Gerykova Bujalkova, Maria, Bartsch, Christine, Fritz, Barbara, Knopp, Cordula, Beckers, Björn, Dohle, Frank, Meyer-Wittkopf, Matthias, Axt-Fliedner, Roland, Beribisky, Alexander V, Hofer, Manuel, Laccone, Franco, Schoner, Katharina
Published in Orphanet journal of rare diseases (12.03.2024)
Published in Orphanet journal of rare diseases (12.03.2024)
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Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance
Minarik, Gabriel, Repiska, Gabriela, Hyblova, Michaela, Nagyova, Emilia, Soltys, Katarina, Budis, Jaroslav, Duris, Frantisek, Sysak, Rastislav, Gerykova Bujalkova, Maria, Vlkova-Izrael, Barbora, Biro, Orsolya, Nagy, Balint, Szemes, Tomas
Published in PloS one (15.12.2015)
Published in PloS one (15.12.2015)
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Large neutral amino acid levels tune perinatal neuronal excitability and survival
Knaus, Lisa S., Basilico, Bernadette, Malzl, Daniel, Gerykova Bujalkova, Maria, Smogavec, Mateja, Schwarz, Lena A., Gorkiewicz, Sarah, Amberg, Nicole, Pauler, Florian M., Knittl-Frank, Christian, Tassinari, Marianna, Maulide, Nuno, Rülicke, Thomas, Menche, Jörg, Hippenmeyer, Simon, Novarino, Gaia
Published in Cell (27.04.2023)
Published in Cell (27.04.2023)
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Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature
Behunova, Jana, Gerykova Bujalkova, Maria, Gras, Gabriel, Taylor, Thomas, Ihm, Ulrike, Kircher, Susanne, Rehder, Helga, Laccone, Franco
Published in Molecular syndromology (01.01.2019)
Published in Molecular syndromology (01.01.2019)
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Molecular genetic methods in the diagnosis of myelodysplastic syndromes. A review
Lukackova, Renata, Gerykova Bujalkova, Maria, Majerova, Lubica, Mladosievicova, Beata
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01.09.2014)
Published in Biomedical papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia (01.09.2014)
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Identification of a novel mutations BRCA1c.80 + 3del4 and BRCA2c.6589delA in Slovak HBOC families
Konecny, Michal, Vizvaryova, Miriam, Zavodna, Katarina, Behulova, Regina, Gerykova Bujalkova, Maria, Krivulcik, Tomas, Cisarik, Frantisek, Kausitz, Juraj, Weismanova, Eva
Published in Breast cancer research and treatment (2010)
Published in Breast cancer research and treatment (2010)
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Performance of clinical risk scores and prediction models to identify pathogenic germline variants in patients with advanced prostate cancer
Rebhan, Katharina, Stelzer, Philipp D., Pradere, Benjamin, Rajwa, Pawel, Kramer, Gero, Hofmann, Bernd, Resch, Irene, Yurdakul, Ozan, Laccone, Franco A., Bujalkova, Maria Gerykova, Smogavec, Mateja, Tan, Yen Y., Ristl, Robin, Shariat, Shahrokh F., Egger, Gerda, Hassler, Melanie R.
Published in World journal of urology (01.08.2023)
Published in World journal of urology (01.08.2023)
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Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance: e0144811
Minarik, Gabriel, Repiska, Gabriela, Hyblova, Michaela, Nagyova, Emilia, Soltys, Katarina, Budis, Jaroslav, Duris, Frantisek, Sysak, Rastislav, Bujalkova, Maria Gerykova, Vlkova-Izrael, Barbora
Published in PloS one (01.12.2015)
Published in PloS one (01.12.2015)
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Identification of a novel mutations c.80 + 3del4 and c.6589delA in Slovak HBOC families
Konecny, Michal, Vizvaryova, Miriam, Zavodna, Katarina, Behulova, Regina, Gerykova Bujalkova, Maria, Krivulcik, Tomas, Cisarik, Frantisek, Kausitz, Juraj, Weismanova, Eva
Published in Breast cancer research and treatment (15.11.2008)
Published in Breast cancer research and treatment (15.11.2008)
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Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers
Zavodna, Katarina, Krivulcik, Tomas, Bujalkova, Maria Gerykova, Slamka, Tomas, Martinicky, David, Ilencikova, Denisa, Bartosova, Zdena
Published in BMC cancer (20.11.2009)
Published in BMC cancer (20.11.2009)
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