Lehrstuhl für Kinder- und Jugendmedizin

Expanding the spectrum of WDR62 mutations : description of new cases (2020) Ruaud L, Drunat S, Ernault A, Capri Y, Van Maldergem L, Engel C, Altuzarra C, et al. Conference contribution Tetrasomy of SCN2A associated with refractory neonatal epileptic encephalopathy (2020) Krumbiegel M, Trollmann R, Mammadova D, Schnell A, Kraus C, Ekici AB, Reis A, Zweier C Conference contribution Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020) Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R Conference contribution Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis (2020) Taylan C, Driemeyer J, Schmitt CP, Pape L, Büscher R, Galiano M, König J, et al. Journal article Latent class distributional regression for the estimation of non-linear reference limits from contaminated data sources (2020) Hepp T, Zierk J, Rauh M, Metzler M, Mayr A Journal article Reference Interval Estimation from Mixed Distributions using Truncation Points and the Kolmogorov-Smirnov Distance (kosmic) (2020) Zierk J, Arzideh F, Kapsner L, Prokosch HU, Metzler M, Rauh M Journal article BAFF 60-mer, and Differential BAFF 60-mer Dissociating Activities in Human Serum, Cord Blood and Cerebrospinal Fluid (2020) Eslami M, Meinl E, Eibel H, Willen L, Donzé O, Distl O, Schneider H, et al. Journal article Evolving pituitary hormone deficits in primarily isolated GHD: a review and experts' consensus. (2020) Binder G, Schnabel D, Reinehr T, Pfaeffle R, Dörr HG, Bettendorf M, Hauffa BP, Wölfle J Journal article, Review article Disability Rating in Children and Adolescents with Chronic Myeloid Leukemia (2020) Suttorp M, Sembill S, Metzler M Journal article Early start of growth hormone is associated with positive effects on auxology and metabolism in Prader-Willi-syndrome (2020) Magill L, Laemmer C, Wölfle J, Fimmers R, Gohlke B Journal article