Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism von Wirth, Thomas, Mariani, Louise Laure, Bergant, Gaber, Baulac, Michel, Habert, Marie‐Odile, Drouot, Nathalie, Ollivier, Emmanuelle, Hodžić, Alenka, Rudolf, Gorazd, Nitschke, Patrick, Rudolf, Gabrielle, Chelly, Jamel, Tranchant, Christine, Anheim, Mathieu, Roze, Emmanuel

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Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation von Ales, Maver, Luca, Lovrecic, Marija, Volk, Gorazd, Rudolf, Karin, Writzl, Ana, Blatnik, Alenka, Hodzic, Peterlin, Borut

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Evaluation of Optical Genome Mapping in Clinical Genetic Testing of Facioscapulohumeral Muscular Dystrophy von Kovanda, Anja, Lovrečić, Luca, Rudolf, Gorazd, Babic Bozovic, Ivana, Jaklič, Helena, Leonardis, Lea, Peterlin, Borut

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Clinical utility of array comparative genomic hybridisation in prenatal setting von Lovrecic, Luca, Remec, Ziga Iztok, Volk, Marija, Rudolf, Gorazd, Writzl, Karin, Peterlin, Borut

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Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis von Maver, Ales, Lavtar, Polona, Ristić, Smiljana, Stopinšek, Sanja, Simčič, Saša, Hočevar, Keli, Sepčić, Juraj, Drulović, Jelena, Pekmezović, Tatjana, Novaković, Ivana, Alenka, Hodžić, Rudolf, Gorazd, Šega, Saša, Starčević-Čizmarević, Nada, Palandačić, Anja, Zamolo, Gordana, Kapović, Miljenko, Likar, Tina, Peterlin, Borut

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Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis von Lavtar, Polona, Rudolf, Gorazd, Maver, Aleš, Hodžić, Alenka, Starčević Čizmarević, Nada, Živković, Maja, Šega Jazbec, Saša, Klemenc Ketiš, Zalika, Kapović, Miljenko, Dinčić, Evica, Raičević, Ranko, Sepčić, Juraj, Lovrečić, Luca, Stanković, Aleksandra, Ristić, Smiljana, Peterlin, Borut

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Impact of prenatal screening on the prevalence of Down syndrome in Slovenia von Rudolf, Gorazd, Tul, Nataša, Verdenik, Ivan, Volk, Marija, Brezigar, Anamarija, Kokalj Vokač, Nadja, Jeršin, Nataša, Prosenc, Bernarda, Premru Sršen, Tanja, Peterlin, Borut

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The frequency of CNV s in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy von Rudolf, Gorazd, Lovrečić, Luca, Tul, Nataša, Teran, Nataša, Peterlin, Borut

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Self-reported perinatal depressive symptoms and postnatal symptom severity after treatment with antidepressants in pregnancy: a cross-sectional study across 12 European countries u... von Lupattelli, Angela, Twigg, Michael J, Zagorodnikova, Ksenia, Moretti, Myla E, Drozd, Mariola, Panchaud, Alice, Rieutord, Andre, Juraski, Romana Gjergja, Odalovic, Marina, Kennedy, Debra, Rudolf, Gorazd, Juch, Herbert, Nordeng, Hedvig

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The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy von Rudolf, Gorazd, Lovrečić, Luca, Tul, Nataša, Teran, Nataša, Peterlin, Borut

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A new case of rare proximal 3q13 interstitial deletion von Lovrecic, Luca, Rudolf, Gorazd, Veble, Alenka, Peterlin, Borut

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Medication use in pregnancy: a cross-sectional, multinational web-based study von Lupattelli, A, Spigset, O, Twigg, M J, Zagorodnikova, K, Mårdby, A C, Moretti, M E, Drozd, M, Panchaud, A, Hämeen-Anttila, K, Rieutord, A, Gjergja Juraski, R, Odalovic, M, Kennedy, D, Rudolf, G, Juch, H, Passier, A, Björnsdóttir, I, Nordeng, H

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PRACTICAL CONSIDERATIONS OF DNA TESTING IN MEDICINE von Gorazd Rudolf, Borut Peterlin

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The association between antidepressant treatment in pregnancy and self-report of postnatal depressive symptoms using the Edinburgh Postnatal Depression Scale von Lupattelli, Angela, Twigg, Michael J., Zagorodnikova, Ksenia, Moretti, Myla E., Drozd, Mariola, Panchaud, Alice, Rieutord, Andre, Juraski, Romana Gjergja, Odalovic, Marina, Kennedy, Debra, Rudolf, Gorazd, Juch, Herbert, Nordeng, Hedvig

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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas von Tolchin, Dara, Yeager, Jessica P, Prasad, Priya, Dorrani, Naghmeh, Russi, Alvaro Serrano, Martinez-Agosto, Julian A, Haseeb, Abdul, Angelozzi, Marco, Santen, G.W.E, Ruivenkamp, Claudia, Mercimek-Andrews, Saadet, Depienne, Christel, Kuechler, Alma, Mikat, Barbara, Ludecke, Hermann-Josef, Bilan, Frederic, Le Guyader, Gwenael, Gilbert-Dussardier, Brigitte, Keren, Boris, Heide, Solveig, Haye, Damien, Van Esch, Hilde, Keldermans, Liesbeth, Ortiz, Damara, Lancaster, Emily, Krantz, Ian D, Krock, Bryan L, Pechter, Kieran B, Arkader, Alexandre, Medne, Livija, DeChene, Elizabeth T, Calpena, Eduardo, Melistaccio, Giada, Wilkie, Andrew O.M, Suri, Mohnish, Foulds, Nicola, Begtrup, Amber, Henderson, Lindsay B, Forster, Cara, Reed, Patrick, McDonald, Marie T, McConkie-Rosell, Allyn, Thevenon, Julien, Le Tanno, Pauline, Coutton, Charles, Tsai, Anne C.H, Stewart, Sarah, Maver, Ales, Gorazd, Rudolf, Pichon, Olivier, Nizon, Mathilde, Cogne, Benjamin, Isidor, Bertrand, Martin-Coignard, Dominique, Stoeva, Radka, Lefebvre, Veronique, Le Caignec, Cedric

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Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss von Vrečar, Irena, Rudolf, Gorazd, Peterlin, Borut, Lovrecic, Luca

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PEDIA: prioritization of exome data by image analysis von 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, Dukic, Dejan, Ehmke, Nadja, Fauth, Christine, Fischer-Zirnsak, Bjoern, 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, Koehler, Sebastian, Kornak, Uwe, Lavrov, Alexander, Leitheiser, Maximilian, Lyon, Gholson J, Mangold, Elisabeth, Marin Reina, Purificacion, Martinez Carrascal, Antonio, Mitter, Diana, Morlan Herrador, Laura, Nadav, Guy, Noethen, Markus, Orrico, Alfredo, Ott, Claus-Eric, Park, Kristen, Peterlin, Borut, Poeisler, 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, Wisniewska, Marzena, Wollnik, Bernd, Yeung, Ming W, Zhao, Max, Zhu, Na, Zschocke, Johannes, Mundlos, Stefan, Horn, Denise, Krawitz, Peter M

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Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability von Bisschoff, Izak J., Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Katrina E., Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J.

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The Role of TPA I/D and PAI-1 4G/5G Polymorphisms in Multiple Sclerosis von Klupka-Sarić, Inge, Lovrečić, Luca, Starčević Čizmarević, Nada, Živković, Maja, Stanković, Aleksandra, Gašparović, Iva, Lavtar, Polona, Dinčić, Evica, Stojković, Ljiljana, Rudolf, Gorazd, Šega Jazbec, Saša, Perković, Olivio, Sinanović, Osman, Sepčić, Juraj, Kapović, Miljenko, Peterlin, Borut, Ristić, Smiljana

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Novel mutations including deletions of the entire OFD1 gene in 30 families with type I orofaciodigital syndrome: a study of the extensive clinical variability von Bisschoff, Izak J, Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Trine E, Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J

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