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Lehrstuhl für Kinder- und Jugendmedizin
Friedrich-Alexander-Universität Erlangen-Nürnberg
Medizinische Fakultät
Einrichtungen, die zum Universitätsklinikum Erlangen gehören
Department of Paediatrics and Adolescent Medicine
Overview
Publications
(587)
Research Grants
(1)
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Journal article
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Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility (2018)
Machiela MJ, Gruenewald TGP, Surdez D, Reynaud S, Mirabeau O, Karlins E, Rubio RA, et al.
Conference contribution
SOCIO-ECONOMIC IMPACT OF DRAVET SYNDROME IN GERMANY: A REAL-WORLD STUDY (2018)
Irwin J, Strzelczyk A, Kalski M, Bast T, Wiemer-Kruel A, Bettendorf U, Kieslich M, et al.
Conference contribution
Multiple new susceptibility loci identified in genome-wide association study of Ewing sarcoma (2018)
Machiela MJ, Gruenewald TG, Surdez D, Reynaud S, Mirabeau O, Karlins E, Rubio RA, et al.
Conference contribution
Sweating ability of patients with p63-associated syndromes (2018)
Ferstl P, Wohlfart S, Schneider H
Journal article
Short-term adverse effects of testosterone used for priming in prepubertal boys before growth hormone stimulation test (2018)
Albrecht A, Penger T, Marx M, Hirsch K, Dörr HG
Journal article
Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation (2018)
Reimer A, Schwieger-Briel A, He Y, Leppert J, Schauer F, Kiritsi D, Schneider H, et al.
Journal article
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia (2018)
Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Koerber I, Wohlfart S, Dick A, Wahlbuhl M, et al.
Journal article
MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia (2018)
Germeshausen M, Ancliff P, Estrada J, Metzler M, Ponstingl E, Ruetschle H, Schwabe D, et al.
Journal article
Miscarriages in families with an offspring that have classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (2018)
Dörr HG, Hess J, Penger T, Marx M, Oppelt P
Journal article
Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors (2018)
Anderson ND, De Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, et al.
Journal article
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