Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene
Ardon, O, Procter, M, Tvrdik, T, Longo, N, Mao, R
Published in Molecular genetics and metabolism reports (01.01.2014)
Published in Molecular genetics and metabolism reports (01.01.2014)
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Molecular characterization of two deletion events involving alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
TVRDIK, T, MARCUS, S, HOU, S.-M, FÄLT, S, NOORI, P, PODLUTSKAJA, N, HANEFELD, F, STRØMME, P, LAMBERT, B
Published in Human genetics (01.09.1998)
Published in Human genetics (01.09.1998)
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Myers, Candace T., Schwarz, Niklas, Gandini, Maria A., Keren, Boris, Mignot, Cyril, Afenjar, Alexandra, Billette de Villemeur, Thierry, Héron, Delphine, Nava, Caroline, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kibaek, Maria, Kamsteeg, Erik-Jan, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Padilla-Lopez, Sergio, Lindstrom, Kristin, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Boysen, Katja, Vairo, Filippo, Lanpher, Brendan C., Klee, Eric W., Tillema, Jan-Mendelt, Cousin, Margot A., Baker, Joshua, Haan, Eric, Smith, Nicholas, Davis, Erica E., Katsanis, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Smith, Edward, Wiener, John, Corbett, Mark A., MacLennan, Alastair H., Biskup, Saskia, Rodan, Lance H., Segal, Eric, Dimmock, David, McCarrier, Julie, Botto, Lorenzo D., Filloux, Francis, Klingerman, Sherry, Neumann, Catherine, Wang, Raymond, Jacobsen, Jessie C., Snell, Russell G., Lehnert, Klaus, Anderlid, Britt-Marie, Kvarnung, Malin, Guerrini, Renzo, Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, Smith, Lacey A., Rotenberg, Alexander, Poduri, Annapurna, Sanchis-Juan, Alba, Carss, Keren J., Rankin, Julia, Zeman, Adam, Raymond, F. Lucy, Blyth, Moira, Kerr, Bronwyn, Urquhart, Jill, Hughes, Imelda, Banka, Siddharth, Hedrich, Ulrike B.S., Scheffer, Ingrid E., Zamponi, Gerald W., Lerche, Holger, Mefford, Heather C.
Published in American journal of human genetics (07.03.2019)
Published in American journal of human genetics (07.03.2019)
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An evaluation of styrene genotoxicity using several biomarkers in a 3-year follow-up study of hand-lamination workers
Vodička, Pavel, Tvrdik, Tatiana, Osterman-Golkar, Siv, Vodičková, Ludmila, Peterková, Kateřina, Souček, Pavel, Šarmanová, Jana, Farmer, Peter B, Granath, Fredrik, Lambert, Bo, Hemminki, Kari
Published in Mutation research (30.09.1999)
Published in Mutation research (30.09.1999)
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Conference Proceeding
A comparative study of the expression patterns for vegf, vegf-b/vrf and vegf-c in the developing and adult mouse
Lagercrantz, Jacob, Farnebo, Filip, Larsson, Catharina, Tvrdik, Tatiana, Weber, Günther, Piehl, Fredrik
Published in Biochimica et biophysica acta (16.06.1998)
Published in Biochimica et biophysica acta (16.06.1998)
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An evaluation of styrene genotoxicity using several biomarkers in a 3-year follow-up study of hand-lamination workers: Biomarkers in monitoring of occupational and environmental exposure to organic genotoxic substances
VODICKA, P, TVRDIK, T, HEMMINKI, K, OSTERMAN-GOLKAR, S, VODICKOVA, L, PETERKOVA, K, SOUCEK, P, SARMANOVA, J, FARMER, P. B, GRANATH, F, LAMBERT, B
Published in Mutation research. Genetic toxicology and environmental mutagenesis (1999)
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Published in Mutation research. Genetic toxicology and environmental mutagenesis (1999)
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