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No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

2021 . Körber, Laura | Schneider, Holm | Fleischer, Nicole | Maier-Wohlfart, Sigrun

Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants

2021 . Solheim, Tuva Å. | Fornander, Freja | Raja, Anna A. | Møgelvang, Rasmus | Poulsen, Nanna S. | Dunø, Morten | Bundgaard, Henning | Vissing, John

BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center

2021 . Cocchi, Nicoletta | Jacobsen, Eva-Maria | Hoenig, Manfred | Schulz, Ansgar | Schuetz, Catharina

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation

2021 . Meinhardt, Andrea | Ramos, Paula C. | Dohmen, R. Jürgen | Lucas, Nadja | Lee-Kirsch, Min Ae | Becker, Benjamin | de Laffolie, Jan | Cunha, Tomás | Niehues, Tim | Salzer, Ulrich | Yoshimi, Ayami | Erlacher, Miriam | Peters, Anke M. J. | Ehl, Stephan | Strahm, Brigitte | Speckmann, Carsten

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females

X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women

2009 . Siddiqui, Roman A. | Sauermann, Ulrike | Altmüller, Janine | Fritzer, Elfriede | Nothnagel, Michael | Dalibor, Nina | Fellay, Jacques | Kaup, Franz-Josef | Stahl-Hennig, Christiane | Nürnberg, Peter | Krawczak, Michael | Platzer, Matthias