Lehrstuhl für Kinder- und Jugendmedizin

SIADH as presenting feature of foramen magnum stenosis in a 2-month-old infant with achondroplasia (ACH): case report and discussion on management of infants with ACH in order to reduce the risk of serious complications (2022) Cebeci AN, Hébert S, Reutter HM, Wölfle J Conference contribution Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure (2022) Biebach L, Cindrić S, Koenig J, Aprea I, Dougherty GW, Raidt J, Bracht D, et al. Journal article Further Evidence of Neuroprotective Effects of Recombinant Human Erythropoietin and Growth Hormone in Hypoxic Brain Injury in Neonatal Mice (2022) Klepper S, Jung S, Dittmann L, Geppert CI, Hartmann A, Beier N, Trollmann R Journal article Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria (2022) Warncke K, Eckert A, Kapellen T, Kummer S, Raile K, Dunstheimer D, Grulich-Henn J, et al. Journal article Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy (2022) Pechmann A, Behrens M, Doernbrack K, Tassoni A, Stein S, Vogt S, Zoeller D, et al. Journal article Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (2022) Hahn A, Guenther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al. Journal article Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance (2022) Goekdere S, Schneider H, Hehr U, Willen L, Schneider P, Maier-Wohlfart S Journal article Surveillance of Acute SARS-CoV-2 Infections in Elementary Schools and Daycare Facilities in Bavaria, Germany (09/2020-03/2021) (2022) Kern A, Kuhlmann PH, Matl S, Ege M, Maison N, Eckert J, Von Both U, et al. Journal article Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors (2022) Alves CA, Sherbini O, D’Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, et al. Journal article A Modified Surgical Technique for Kidney Transplantation in Mice (2022) Yin D, Fu J, Chen R, Shushakova N, Allabauer I, Wei X, Schiffer M, et al. Journal article