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 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 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 2021

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

por El-Gazzar, Ahmed, Mayr, Johannes A., Voraberger, Barbara, Brugger, Karin, Blouin, Stéphane, Tischlinger, Katharina, Duba, Hans-Christoph, Prokisch, Holger, Fratzl-Zelman, Nadja, Högler, Wolfgang
Publicado 2021

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations

por Smogavec, Mateja, Gerykova Bujalkova, Maria, Lehner, Reinhard, Neesen, Jürgen, Behunova, Jana, Yerlikaya-Schatten, Gülen, Reischer, Theresa, Altmann, Reinhard, Weis, Denisa, Duba, Hans-Christoph, Laccone, Franco
Publicado 2022

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

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

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

por Nagy, Dóra, Verheyen, Sarah, Wigby, Kristen M., Borovikov, Artem, Sharkov, Artem, Slegesky, Valerie, Larson, Austin, Fagerberg, Christina, Brasch-Andersen, Charlotte, Kibæk, Maria, Bader, Ingrid, Hernan, Rebecca, High, Frances A., Chung, Wendy K., Schieving, Jolanda H., Behunova, Jana, Smogavec, Mateja, Laccone, Franco, Witsch-Baumgartner, Martina, Zobel, Joachim, Duba, Hans-Christoph, Weis, Denisa
Publicado 2022

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 2021