Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report

Por Bumm, Klaus, Zenker, Martin, Bozzato, Alessandro
Publicado em 2009

Clinical utility gene card for: Johanson–Blizzard syndrome

Por Sukalo, Maja, Mayerle, Julia, Zenker, Martin
Publicado em 2014

Noonan syndrome and clinically related disorders

Por Tartaglia, Marco, Gelb, Bruce D., Zenker, Martin
Publicado em 2011

An unexpected new role of mutant Ras: perturbation of human embryonic development

Por Kratz, Christian P., Niemeyer, Charlotte M., Zenker, Martin
Publicado em 2007

Johanson-Blizzard syndrome

Por Almashraki, Nabeel, Abdulnabee, Mukarram Zainuddin, Sukalo, Maja, Alrajoudi, Abdullah, Sharafadeen, Iman, Zenker, Martin
Publicado em 2011

Clinical and Genetic Distinction of Schimke Immuno-Osseous Dysplasia and Cartilage-Hair Hypoplasia

Por Baradaran-Heravi, Alireza, Thiel, Christian, Rauch, Anita, Zenker, Martin, Boerkoel, Cornelius F., Kaitila, Ilkka
Publicado em 2008

Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing

Por Alkhouri, Naim, Kaplan, Barbara, Kay, Marsha, Shealy, Amy, Crowe, Carol, Bauhuber, Susanne, Zenker, Martin
Publicado em 2008

A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberra...

Por Zenker, Martin, Rauch, Anita, Winterpacht, Andreas, Tagariello, Andreas, Kraus, Cornelia, Rupprecht, Thomas, Sticht, Heinrich, Reis, André
Publicado em 2004

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Por Reunert, Janine, Wentzell, Rüdiger, Walter, Michael, Jakubiczka, Sibylle, Zenker, Martin, Brune, Thomas, Rust, Stephan, Marquardt, Thorsten
Publicado em 2012

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Por Döcker, Dennis, Schubach, Max, Menzel, Moritz, Spaich, Christiane, Gabriel, Heinz-Dieter, Zenker, Martin, Bartholdi, Deborah, Biskup, Saskia
Publicado no Eur J Hum Genet (2015)

Genomic Duplication of PTPN11 is an Uncommon Cause of Noonan Syndrome

Por Graham, John M., Kramer, Nancy, Bejjani, Bassem A., Thiel, Christian T., Carta, Claudio, Neri, Giovanni, Tartaglia, Marco, Zenker, Martin
Publicado em 2009

Clinical and Molecular Findings of Tunisian Patients with RASopathies

Por Louati, Rim, Abdelmoula, N. Bouayed, Trabelsi, Imen, Abid, Dorra, Lissewski, Christina, Kharrat, Najla, Kamoun, Samir, Zenker, Martin, Rebai, Tarek
Publicado em 2014

Biochemical and Functional Characterization of Germ Line KRAS Mutations

Por Schubbert, Suzanne, Bollag, Gideon, Lyubynska, Natalya, Nguyen, Hoa, Kratz, Christian P., Zenker, Martin, Niemeyer, Charlotte M., Molven, Anders, Shannon, Kevin
Publicado em 2007

Germline KRAS Mutations Cause Aberrant Biochemical and Physical Properties Leading to Developmental Disorders

Por Gremer, Lothar, Merbitz-Zahradnik, Torsten, Dvorsky, Radovan, Cirstea, Ion C., Kratz, Christian Peter, Zenker, Martin, Wittinghofer, Alfred, Ahmadian, Mohammad Reza
Publicado em 2010

Magnetic resonance lung function – a breakthrough for lung imaging and functional assessment? A phantom study and clinical trial

Por Zapke, Maren, Topf, Hans-Georg, Zenker, Martin, Kuth, Rainer, Deimling, Michael, Kreisler, Peter, Rauh, Manfred, Chefd'hotel, Christophe, Geiger, Bernhard, Rupprecht, Thomas
Publicado em 2006

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

Por van der Burgt, Ineke, Kupsky, William, Stassou, Stephani, Nadroo, Ali, Barroso, Cândida, Diem, Angelika, Kratz, Christian P, Dvorsky, Radovan, Ahmadian, Mohammad Reza, Zenker, Martin
Publicado em 2007

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Por Hwang, Cheol-Sang, Sukalo, Maja, Batygin, Olga, Addor, Marie-Claude, Brunner, Han, Aytes, Antonio Perez, Mayerle, Julia, Song, Hyun Kyu, Varshavsky, Alexander, Zenker, Martin
Publicado em 2011

Synaptic activity controls localization and function of CtBP1 via binding to Bassoon and Piccolo

Por Ivanova, Daniela, Dirks, Anika, Montenegro-Venegas, Carolina, Schöne, Cornelia, Altrock, Wilko D, Marini, Claudia, Frischknecht, Renato, Schanze, Denny, Zenker, Martin, Gundelfinger, Eckart D, Fejtova, Anna
Publicado no EMBO J (2015)

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene

Por Freunscht, Inga, Popp, Bernt, Blank, Rainer, Endele, Sabine, Moog, Ute, Petri, Holger, Prott, Eva-Christina, Reis, Andre, Rübo, Jochen, Zabel, Bernhard, Zenker, Martin, Hebebrand, Johannes, Wieczorek, Dagmar
Publicado em 2013

Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression

Por Richter, Anni, Guitart-Masip, Marc, Barman, Adriana, Libeau, Catherine, Behnisch, Gusalija, Czerney, Sophia, Schanze, Denny, Assmann, Anne, Klein, Marieke, Düzel, Emrah, Zenker, Martin, Seidenbecher, Constanze, Schott, Björn H.
Publicado no Front Syst Neurosci (2015)