Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS

por Peters, Bianca, Wiemers, Felix, Lenz, Dominic, Kölker, Stefan, Hoffmann, Georg F., Köhler, Siegmund, Staufner, Christian
Publicado 2023

FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

por Garbade, Sven F., Zielonka, Matthias, Mechler, Konstantin, Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian, Mengel, Eugen, Ries, Markus
Publicado 2020

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia—A Cross-Sectional Study

por Kovacevic, Alexander, Garbade, Sven F., Hörster, Friederike, Hoffmann, Georg F., Gorenflo, Matthias, Mereles, Derliz, Kölker, Stefan, Staufner, Christian
Publicado 2023

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders

por Barić, Ivo, Staufner, Christian, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Dobbelaere, Dries, Grünert, Sarah C., Opladen, Thomas, Petković Ramadža, Danijela, Rakić, Bojana, Wedell, Anna, Blom, Henk J.
Publicado 2016

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment

por Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko
Publicado 2023

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency

por Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian
Publicado 2021

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

por Lenz, Dominic, McClean, Patricia, Kansu, Aydan, Bonnen, Penelope E, Ranucci, Giusy, Thiel, Christian, Straub, Beate K, Harting, Inga, Alhaddad, Bader, Dimitrov, Bianca, Kotzaeridou, Urania, Wenning, Daniel, Iorio, Raffaele, Himes, Ryan W, Kuloğlu, Zarife, Blakely, Emma L, Taylor, Robert W, Meitinger, Thomas, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F, Haack, Tobias B, Staufner, Christian
Publicado 2018

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

por Rüegger, Corinne M., Lindner, Martin, Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Das, Anibh, Gautschi, Matthias, Glahn, Esther M., Grünert, Sarah C., Hennermann, Julia, Hochuli, Michel, Huemer, Martina, Karall, Daniela, Kölker, Stefan, Lachmann, Robin H., Lotz-Havla, Amelie, Möslinger, Dorothea, Nuoffer, Jean-Marc, Plecko, Barbara, Rutsch, Frank, Santer, René, Spiekerkoetter, Ute, Staufner, Christian, Stricker, Tamar, Wijburg, Frits A., Williams, Monique, Burgard, Peter, Häberle, Johannes
Publicado 2013

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

por Haack, Tobias B., Staufner, Christian, Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Zschocke, Johannes, Kremer, Laura S., Graf, Elisabeth, Schwarzmayr, Thomas, Bader, Daniel M., Gagneur, Julien, Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger
Publicado 2015

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

por Maas, Roeltje R., Iwanicka‐Pronicka, Katarzyna, Kalkan Ucar, Sema, Alhaddad, Bader, AlSayed, Moeenaldeen, Al‐Owain, Mohammed A., Al‐Zaidan, Hamad I., Balasubramaniam, Shanti, Barić, Ivo, Bubshait, Dalal K., Burlina, Alberto, Christodoulou, John, Chung, Wendy K., Colombo, Roberto, Darin, Niklas, Freisinger, Peter, Garcia Silva, Maria Teresa, Grunewald, Stephanie, Haack, Tobias B., van Hasselt, Peter M., Hikmat, Omar, Hörster, Friederike, Isohanni, Pirjo, Ramzan, Khushnooda, Kovacs‐Nagy, Reka, Krumina, Zita, Martin‐Hernandez, Elena, Mayr, Johannes A., McClean, Patricia, De Meirleir, Linda, Naess, Karin, Ngu, Lock H., Pajdowska, Magdalena, Rahman, Shamima, Riordan, Gillian, Riley, Lisa, Roeben, Benjamin, Rutsch, Frank, Santer, Rene, Schiff, Manuel, Seders, Martine, Sequeira, Silvia, Sperl, Wolfgang, Staufner, Christian, Synofzik, Matthis, Taylor, Robert W., Trubicka, Joanna, Tsiakas, Konstantinos, Unal, Ozlem, Wassmer, Evangeline, Wedatilake, Yehani, Wolff, Toni, Prokisch, Holger, Morava, Eva, Pronicka, Ewa, Wevers, Ron A., de Brouwer, Arjan P., Wortmann, Saskia B.
Publicado 2017

Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016

por van den Bruck, Rhea, Weil, Patrick P., Ziegenhals, Thomas, Schreiner, Philipp, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Orth, Valerie, Dörner, Johannes, Pembaur, Daniel, Röper, Meike, Störkel, Stefan, Zirngibl, Hubert, Wirth, Stefan, Jenke, Andreas C. W., Postberg, Jan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Burgard, Peter, Kölker, Stefan, Chao, Cho-Ming, Yahya, Faady, Moiseenko, Alena, Shrestha, Amit, Ahmadvand, Negah, Quantius, Jennifer, Wilhelm, Jochen, El-Agha, Elie, Zimmer, Klaus-Peter, Bellusci, Saverio, Staufner, Christian, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Müller, Matthias, Hippe, Andreas, Steinkraus, Henrik, Wauer, Roland, Lachmann, Burkhard, Hofmann, Sigrun R., Hedrich, Christian M., Zierk, Jakob, Arzideh, Farhad, Haeckel, Rainer, Rascher, Wolfgang, Rauh, Manfred, Metzler, Markus, Thieme, Sebastian, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Jamal, Arshad, Ashton, Michelle P., von Bonin, Malte, Kuhn, Matthias, Hedrich, Christian M., Bonifacio, Ezio, Berner, Reinhard, Brenner, Sebastian, Hammersen, Johanna, Has, Cristina, Naumann-Bartsch, Nora, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Tardieu, Mathilde, Metzler, Markus, Bruckner-Tuderman, Leena, Schneider, Holm, Bohne, F., Langer, D., Cencic, R., Eggermann, T., Zechner, U., Pelletier, J., Zepp, F., Enklaar, T., Prawitt, D., Pech, Martin, Weckmann, Markus, Heinsen, Femke-Anouska, Franke, Andre, Happle, Christine, Dittrich, Anna-Maria, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Kopp, Matthias V., Paret, Claudia, Russo, Alexandra, Theruvath, Johanna, Keller, Bettina, El Malki, Khalifa, Lehmann, Nadine, Wingerter, Arthur, Neu, Marie A., Aslihan, Gerhold-Ay, Wagner, Wolfgang, Sommer, Clemens, Pietsch, Torsten, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Michalik, Michael, Rother, Eva, Bilkei-Gorzo, Andras, Racz, Ildiko, Bindila, Laura, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Woelfle, Joachim, Fischer, Hendrik S., Ullrich, Tim L., Bührer, Christoph, Czernik, Christoph, Schmalisch, Gerd, Stein, Robert, Hofmann, Sigrun R., Hagenbuchner, Judith, Kiechl-Kohlendorfer, Ursula, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Wallmeier, Julia, Omran, Heymut, Öner-Sieben, Soner, Gimpfl, Martina, Rozman, Jan, Irmler, Martin, Beckers, Johannes, De Angelis, Martin Hrabe, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Nemes, Karolina, Frühwald, Michael, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Wang, Haicui, Hardy, Holly, Refai, Osama, Barwick, Katy E. S., Zimmerman, Holly H., Weis, Joachim, Baple, Emma L., Crosby, Andrew H., Cirak, Sebahattin, Hellmuth, C., Uhl, O., Standl, M., Heinrich, J., Thiering, E., Koletzko, B., Blümel, Lena, Kerl, Kornelius, Picard, Daniel, Frühwald, Michael C., Liebau, Max C., Reifenberger, Guido, Borkhardt, Arndt, Hasselblatt, Martin, Remke, Marc, Tews, D., Wabitsch, M., Fischer-Posovszky, P., Westhoff, Mike-Andrew, Nonnenmacher, Lisa, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael
Publicado 2017