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Year Number of Results
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2002 2
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2007 3
2008 3
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47 results

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Page 1
A case report of Sanfilippo syndrome - the long way to diagnosis.
Lorenz D, Musacchio T, Kunstmann E, Grauer E, Pluta N, Stock A, Speer CP, Hebestreit H. Lorenz D, et al. Among authors: grauer e. BMC Neurol. 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7. BMC Neurol. 2022. PMID: 35291973 Free PMC article.
Effect of the addition of a mental health specialist for evaluation of undiagnosed patients in centres for rare diseases (ZSE-DUO): a prospective, controlled trial with a two-phase cohort design.
Hebestreit H, Lapstich AM, Brandstetter L, Krauth C, Deckert J, Haas K, Pfister L, Witt S, Schippers C, Dieris-Hirche J, Maisch T, Tüscher O, Bârlescu L, Berger A, Berneburg M, Britz V, Deibele A, Graeßner H, Gündel H, Heuft G, Lücke T, Mundlos C, Quitmann J, Rutsch F, Schubert K, Schulz JB, Schweiger S, Zeidler C, Zeltner L, de Zwaan M; ZSE-DUO Working Group. Hebestreit H, et al. EClinicalMedicine. 2023 Oct 6;65:102260. doi: 10.1016/j.eclinm.2023.102260. eCollection 2023 Nov. EClinicalMedicine. 2023. PMID: 37855024 Free PMC article.
The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness.
Hasler D, Meduri R, Bąk M, Lehmann G, Heizinger L, Wang X, Li ZT, Sement FM, Bruckmann A, Dock-Bregeon AC, Merkl R, Kalb R, Grauer E, Kunstmann E, Zavolan M, Liu MF, Fischer U, Meister G. Hasler D, et al. Among authors: grauer e. Mol Cell. 2020 Mar 5;77(5):1014-1031.e13. doi: 10.1016/j.molcel.2020.01.001. Epub 2020 Feb 3. Mol Cell. 2020. PMID: 32017898 Free article.
Differentiating PTSD from anxiety and depression: Lessons from the ICD-11 PTSD diagnostic criteria.
Barbano AC, van der Mei WF, deRoon-Cassini TA, Grauer E, Lowe SR, Matsuoka YJ, O'Donnell M, Olff M, Qi W, Ratanatharathorn A, Schnyder U, Seedat S, Kessler RC, Koenen KC, Shalev AY; International Consortium to Prevent PTSD. Barbano AC, et al. Among authors: grauer e. Depress Anxiety. 2019 Jun;36(6):490-498. doi: 10.1002/da.22881. Epub 2019 Jan 25. Depress Anxiety. 2019. PMID: 30681235 Free PMC article.
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.
Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gündel H, Herpertz S, Heuft G, Lapstich AM, Lücke T, Maisch T, Mundlos C, Petermann-Meyer A, Müller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tüscher O, Ungethüm K, Wagner TOF, Haas K; ZSE-DUO working group. Hebestreit H, et al. Orphanet J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1. Orphanet J Rare Dis. 2022. PMID: 35164804 Free PMC article.
47 results