Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | Date | No Grouping
Number of items: 6.

Journal Article

Dworschak, Gabriel C., Punetha, Jaya ORCID: 0000-0002-6774-4464, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Heron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan ORCID: 0000-0001-6461-0957, Chung, Wendy K., O'Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo ORCID: 0000-0002-7272-7079, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Oeznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R. and Reutter, Heiko (2021). Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies. Genet. Med., 23 (9). S. 1715 - 1726. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1530-0366

Kolvenbach, Caroline M., Dworschak, Gabriel C., Frese, Sandra, Japp, Anna S., Schuster, Peggy, Wenzlitschke, Nina, Yilmaz, Oeznur, Lopes, Filipa M., Pryalukhin, Alexey, Schierbaum, Luca, van der Zanden, Loes F. M., Kause, Franziska, Schneider, Ronen, Taranta-Janusz, Katarzyna ORCID: 0000-0002-8762-8866, Szczepanska, Maria ORCID: 0000-0002-6772-1983, Pawlaczyk, Krzysztof, Newman, William G., Beaman, Glenda M., Stuart, Helen M., Cervellione, Raimondo M., Feitz, Wouter F. J., van Rooij, Iris A. L. M., Schreuder, Michiel F., Steffens, Martijn, Weber, Stefanie, Merz, Waltraut M., Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Janine, Berg, Christoph, Kristiansen, Glen, Ludwig, Michael, Reutter, Heiko, Woolf, Adrian S., Hildebrandt, Friedhelm, Grote, Phillip, Zaniew, Marcin, Odermatt, Benjamin and Hilger, Alina C. (2019). Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Am. J. Hum. Genet., 104 (5). S. 994 - 1007. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Kolvenbach, Caroline M., Frese, Sandra K., Dworschak, Gabriel C., Japp, Anna, Schmidt, Johanna M., Zaniew, Martin, Newman, William, Beaman, Glenda, Stuart, Helen, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Cervellione, Raimondo, Roesch, Wolfgang, Weber, Stefanie, Merz, Waldtraut, Hildebrandt, Friedhelm, Feldkoetter, Markus, Hoppe, Bernd, Thiele, Holger, Altmueller, Lanine, Berg, Christoph, Ludwig, Michael, Grote, Philipp, Renner, Heiko, Odermatt, Benjamin and Hilger, Alina C. (2018). MUTATIONS IN BNC2 LEAD TO AUTOSOMAL-DOMINANT LOWER URINARY TRACT OBSTRUCTION (LUTO). Pediatr. Nephrol., 33 (10). S. 1809 - 1811. NEW YORK: SPRINGER. ISSN 1432-198X

Ralser, Damian J., Basmanav, F. Buket Ue., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmueller, Janine, Nuernberg, Peter, Lacombe, Didier ORCID: 0000-0002-8956-2207, Hillen, Uwe, Wenzel, Joerg, Frank, Jorge, Odermatt, Benjamin and Betz, Regina C. (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J. Clin. Invest., 127 (4). S. 1485 - 1491. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Rieke, Johanna Magdalena, Zhang, Rong, Braun, Doreen, Yilmaz, Oeznur, Japp, Anna S., Lopes, Filipa M., Pleschka, Michael, Hilger, Alina C., Schneider, Sophia, Newman, William G., Beaman, Glenda M., Nordenskjoeld, Agneta, Ebert, Anne-Karoline, Promm, Martin, Roesch, Wolfgang H., Stein, Raimund, Hirsch, Karin, Schaefer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., Lacher, Martin, Kluth, Dietrich, Gosemann, Jan-Hendrik, Anderberg, Magnus, Barker, Gillian, Holmdahl, Gundela, Laeckgren, Goran, Keene, David, Cervellione, Raimondo M., Giorgio, Elisa, Di Grazia, Massimo, Feitz, Wouter F. J., Marcelis, Carlo L. M., Van Rooij, Iris A. L. M., Boekenkamp, Arend, Beckers, Goedele M. A., Keegan, Catherine E., Sharma, Amit ORCID: 0000-0002-2216-5389, Dakal, Tikam Chand, Wittler, Lars, Grote, Phillip ORCID: 0000-0002-9254-1458, Zwink, Nadine, Jenetzky, Ekkehart, Brusco, Alfredo, Thiele, Holger ORCID: 0000-0002-0169-998X, Ludwig, Michael, Schweizer, Ulrich ORCID: 0000-0003-1380-4780, Woolf, Adrian S. ORCID: 0000-0001-5541-1358, Odermatt, Benjamin and Reutter, Heiko (2020). SLC20A1Is Involved in Urinary Tract and Urorectal Development. Front. Cell. Dev. Biol., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2296-634X

Weitensteiner, Valerie, Zhang, Rong, Bungenberg, Julia, Marks, Matthias, Gehlen, Jan, Ralser, Damian J., Hilger, Alina C., Sharma, Amit ORCID: 0000-0002-2216-5389, Schumacher, Johannes, Gembruch, Ulrich ORCID: 0000-0001-8284-4669, Merz, Waltraut M., Becker, Albert, Altmueller, Janine, Thiele, Holger, Herrmann, Bernhard G., Odermatt, Benjamin, Ludwig, Michael and Reutter, Heiko (2018). Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. Birth Defects Res., 110 (7). S. 587 - 598. HOBOKEN: WILEY. ISSN 2472-1727

This list was generated on Wed May 25 01:54:27 2022 CEST.