Shaken Baby Syndrome: A Common Variant of Non-Accidental Head Injury in Infants

di Matschke, Jakob, Herrmann, Bernd, Sperhake, Jan, Körber, Friederike, Bajanowski, Thomas, Glatzel, Markus
Pubblicazione 2009

Intranasal breast milk for premature infants with severe intraventricular hemorrhage—an observation

di Keller, Titus, Körber, Friederike, Oberthuer, André, Schafmeyer, Leonie, Mehler, Katrin, Kuhr, Kathrin, Kribs, Angela
Pubblicato in Eur J Pediatr (2018)

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

di Abdel-Salam, Ghada, Thoenes, Michaela, Afifi, Hanan H, Körber, Friederike, Swan, Daniel, Bolz, Hanno Jörn
Pubblicazione 2014

Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy

di Choi, Yo Jun, Halbritter, Jan, Braun, Daniela A., Schueler, Markus, Schapiro, David, Rim, John Hoon, Nandadasa, Sumeda, Choi, Won-il, Widmeier, Eugen, Shril, Shirlee, Körber, Friederike, Sethi, Sidharth K., Lifton, Richard P., Beck, Bodo B., Apte, Suneel S., Gee, Heon Yung, Hildebrandt, Friedhelm
Pubblicato in Am J Hum Genet (2019)

Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

di Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, Botta, Giovanni, Naretto, Valeria G., Janetzki, Catrin, Yaqoob, Nausheen, Ott, Claus-Eric, Seelow, Dominik, Wieczorek, Dagmar, Fiebig, Britta, Wirth, Brunhilde, Hoopmann, Markus, Walther, Marisa, Körber, Friederike, Blankenburg, Markus, Mundlos, Stefan, Heller, Raoul, Hoffmann, Katrin
Pubblicazione 2008

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

di Elsayed, Solaf M., Phillips, Jennifer B., Heller, Raoul, Thoenes, Michaela, Elsobky, Ezzat, Nürnberg, Gudrun, Nürnberg, Peter, Seland, Saskia, Ebermann, Inga, Altmüller, Janine, Thiele, Holger, Toliat, Mohammad, Körber, Friederike, Hu, Xue-Jia, Wu, Yun-Dong, Zaki, Maha S., Abdel-Salam, Ghada, Gleeson, Joseph, Boltshauser, Eugen, Westerfield, Monte, Bolz, Hanno J.
Pubblicato in Hum Mol Genet (2015)