Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

por Zaki, Maha, Thoenes, Michaela, Kawalia, Amit, Nürnberg, Peter, Kaiser, Rolf, Heller, Raoul, Bolz, Hanno J.
Publicado 2017

Maximum bite force in patients with spinal muscular atrophy during the first year of nusinersen therapy – A pilot study

por Kruse, Teresa, Heller, Raoul, Wirth, Brunhilde, Glöggler, Julia, Wurster, Claudia D., Ludolph, Albert C., Braumann, Bert
Publicado 2020

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

por Sibbin, Kristina, Yap, Patrick, Nyaga, Denis, Heller, Raoul, Evans, Stephen, Strachan, Kate, Alburaiky, Salam, Nguyen, Han M. (Alex), Hermann‐Le Denmat, Sylvie, Ganley, Austen R. D., O'Sullivan, Justin M., Bloomfield, Frank H.
Publicado 2021

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

por Blakes, Alexander J. M., Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M., Bicknell, Louise S., Jackson, Meremaihi R., Wade, Emma M., Robertson, Stephen, White, Susan M., Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G. L.
Publicado 2020

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

por Park, Julien H, Nordström, Ulrika, Tsiakas, Konstantinos, Keskin, Isil, Elpers, Christiane, Mannil, Manoj, Heller, Raoul, Nolan, Melinda, Alburaiky, Salam, Zetterström, Per, Hempel, Maja, Schara-Schmidt, Ulrike, Biskup, Saskia, Steinacker, Petra, Otto, Markus, Weishaupt, Jochen, Hahn, Andreas, Santer, René, Marquardt, Thorsten, Marklund, Stefan L, Andersen, Peter M
Publicado 2023

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read...

por Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller‐Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel‐Wolfrum, Kerstin, Khan, Arif O., Bolz, Hanno J.
Publicado 2017