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You searched for: Author/Creator Stenzel, Werner

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2. A Paucisymptomatic Neuromuscular Disease Mimicking Type III 5q-SMA With Complex Rearrangements in the SMN Gene. (February 2014)

4. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. Issue 4 (22nd January 2016)

5. Analysing cerebrospinal fluid with explainable deep learning: From diagnostics to insights. Issue 1 (17th January 2023)

7. Architectural B-cell organization in skeletal muscle identifies subtypes of dermatomyositis. Issue 3 (May 2018)

8. ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment. (13th October 2015)

9. Author Correction: Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia. Issue 1 (December 2018)