Stefanie Beck-Wödl

Stefanie Beck-Wödl

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Stefanie Beck-Wödl

Stefanie Beck-Wödl

Publications by authors named "Stefanie Beck-Wödl"

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Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.

Neuropediatrics 2020 Feb 22;51(1):37-44. Epub 2019 Oct 22.

Department of Neuropaediatrics, Developmental Neurology, Social Paediatrics, University Children's Hospital Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1055/s-0039-1698451DOI Listing
February 2020

SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.

J Hum Genet 2019 Jul 24;64(7):609-616. Epub 2019 Apr 24.

Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.

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http://www.nature.com/articles/s10038-019-0602-8
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http://dx.doi.org/10.1038/s10038-019-0602-8DOI Listing
July 2019

Blue Diaper Syndrome and Mutations.

Pediatrics 2018 04;141(Suppl 5):S501-S505

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1542/peds.2017-0548DOI Listing
April 2018

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome.

Eur J Paediatr Neurol 2016 Jul 28;20(4):661-5. Epub 2016 Apr 28.

Department of Medical Genetics and Applied Genomics, University of Tübingen, Germany; Rare Disease Center Tübingen, University of Tübingen, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2016.04.005DOI Listing
July 2016