Chromosomal Aneuploidies and Early Embryonic Developmental Arrest

por Maurer, Maria, Ebner, Thomas, Puchner, Manuela, Mayer, Richard Bernhard, Shebl, Omar, Oppelt, Peter, Duba, Hans-Christoph
Publicado en Int J Fertil Steril (2015)

Prenatal Genetic Testing for Dopa-Responsive Dystonia – Clinical Judgment in the Context of Next Generation Sequencing

por Nedelea, Florina, Veduta, Alina, Duta, Simona, Vayna, Ana-Maria, Panaitescu, Anca, Peltecu, Gheorghe, Duba, Hans-Christoph
Publicado en J Med Life (2018)

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulm...

por Kušíková, Katarína, Feichtinger, René Günther, Csillag, Bernhard, Kalev, Ognian Kostadinov, Weis, Serge, Duba, Hans-Christoph, Mayr, Johannes Adalbert, Weis, Denisa
Publicado en Front Pediatr (2021)

Quantitative and qualitative trophectoderm grading allows for prediction of live birth and gender

por Ebner, Thomas, Tritscher, Katja, Mayer, Richard B., Oppelt, Peter, Duba, Hans-Christoph, Maurer, Maria, Schappacher-Tilp, Gudrun, Petek, Erwin, Shebl, Omar
Publicado en J Assist Reprod Genet (2015)

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes

por Obenauf, Anna C, Schwarzbraun, Thomas, Auer, Martina, Hoffmann, Eva M, Waldispuehl-Geigl, Julie, Ulz, Peter, Günther, Barbara, Duba, Hans-Christoph, Speicher, Michael R, Geigl, Jochen B
Publicado 2010

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

por Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga, Zoller, Heinz, Utermann, Gerd, Auer-Grumbach, Michaela, Janecke, Andreas R
Publicado 2009

Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability

por Bernkopf, Marie, Webersinke, Gerald, Tongsook, Chanakan, Koyani, Chintan N., Rafiq, Muhammad A., Ayaz, Muhammad, Müller, Doris, Enzinger, Christian, Aslam, Muhammad, Naeem, Farooq, Schmidt, Kurt, Gruber, Karl, Speicher, Michael R., Malle, Ernst, Macheroux, Peter, Ayub, Muhammad, Vincent, John B., Windpassinger, Christian, Duba, Hans-Christoph
Publicado 2014

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

por Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Adès, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C.M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O.M., Brown, Matthew A., Duncan, Emma L., Markie, David M., Robertson, Stephen P.
Publicado en Am J Hum Genet (2016)

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations

por Aldrian, Denise, Vogel, Georg F., Frey, Teresa K., Ayyıldız Civan, Hasret, Aksu, Aysel Ünlüsoy, Avitzur, Yaron, Ramos Boluda, Esther, Çakır, Murat, Demir, Arzu Meltem, Deppisch, Caroline, Duba, Hans-Christoph, Düker, Gesche, Gerner, Patrick, Hertecant, Jozef, Hornová, Jarmila, Kathemann, Simone, Koeglmeier, Jutta, Koutroumpa, Arsinoi, Lanzersdorfer, Roland, Lev-Tzion, Raffi, Lima, Rosa, Mansour, Sahar, Meissl, Manfred, Melek, Jan, Miqdady, Mohamad, Montoya, Jorge Hernan, Posovszky, Carsten, Rachman, Yelena, Siahanidou, Tania, Tabbers, Merit, Uhlig, Holm H., Ünal, Sevim, Wirth, Stefan, Ruemmele, Frank M., Hess, Michael W., Huber, Lukas A., Müller, Thomas, Sturm, Ekkehard, Janecke, Andreas R.
Publicado en J Clin Med (2021)