Lehrstuhl für Kinder- und Jugendmedizin

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders (2022) Schneider H Journal article CFAP74-mutations as cause of Primary Ciliary Dyskinesia (PCD): Clinical presentation and diagnostic challenges (2022) Biebach L, Cindric S, Koenig J, Aprea I, Dougherty G, Raidt J, Bracht D, et al. Conference contribution Mutations in CFAP74 as a cause of primary ciliary dyskinesia (PCD) with normal nasal NO production rate and normal ciliary ultrastructure (2022) Biebach L, Cindric S, Koenig J, Aprea , Dougherty G, Raidt J, Bracht D, et al. Conference contribution Trial in Progress: eine multizentrische Open-label Phase IB/ II Studie zur Bestimmung der Dosierung und Sicherheit von Asciminib bei padiatrischen Patienten mit chronischer myeloischer Leukamie in der chronischen Phase (ASC4kids) (2022) Metzler M, Escherich G, Reinhardt D, Kapoor S, Hoch M, Descamps L, Bayar MA, et al. Conference contribution Targeted Inhibition of Protein Biosynthesis sensitizes Cancer Cells to IRE1a-mediated Apoptosis as a Consequence of the unfolded protein response (2022) Gsottberger F, Meier C, Ammon AM, Parker S, Wendland K, George R, Petkovic S, et al. Conference contribution Real-world data in children with achondroplasia after licensing of Vosoritide (2022) Palm K, Bechthold-Dalla Pozza S, Gausche R, Hoegler W, Hoyer-Kuhn H, Huebner A, Keller A, et al. Conference contribution Pathway to assess severe primary IGF-1 deficiency diagnosis in a real-life setting: data from the Global Increlex (R) Registry (2022) Bang P, Polak M, Bossowski A, De Schepper J, Sert C, Perrot V, Wölfle J Conference contribution COVID-19 and increased prevalence of female precocious puberty in Germany (2022) Baehr S, Schnabel D, Wölfle J, Schreiner F, Gohlke B Conference contribution Influence of prenatal environment and genetic background on glucocorticoid steroid metabolism in monozygotic twins with intra-twin birthweightdifferences (2022) Schulte S, Schreiner F, Plamper M, Kasner C, Gruenewald M, Bartmann PB, Fimmers R, et al. Conference contribution Near final height in 62 twin pairs with twin-to-twin transfusion syndrome is not associated with the GHRd3 genotype (2022) Schreiner F, Schulte S, Kasner C, Bartmann P, Wölfle J, Gohlke B Conference contribution