Orphanet Journal of Rare Diseases

Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central

Publications (27)


Types of publications

Journal article
Unpublished / Preprint

Publication year



Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia (2021) Hennig V, Schuh W, Neubert A, Mielenz D, Jäck HM, Schneider H Journal article Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans (2021) Schwarm C, Gola D, Holtsche MM, Dieterich A, Bhandari A, Freitag M, Nürnberg P, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia (2021) Körber L, Schneider H, Fleischer N, Maier-Wohlfart S Journal article Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy (2021) Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, et al. Journal article Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study (2021) Grau J, Zollner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, et al. 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 Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study (2020) Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, et al. Journal article Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - A randomized, double-blind, placebo-controlled trial (2019) Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, Von Der Hagen M, et al. Journal article The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019) Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al. Journal article
1 2 3