Schaller A - Search Results

1

Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

Sanlialp A, Escher P, Schaller A, Todorova M. Sanlialp A, et al. Among authors: schaller a. Klin Monbl Augenheilkd. 2023 Apr;240(4):536-543. doi: 10.1055/a-2034-6250. Epub 2023 Apr 25. Klin Monbl Augenheilkd. 2023. PMID: 37164409 English.

2

The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease.

Hundsberger F, Escher P, Schaller A, Valmaggia C, Todorova MG. Hundsberger F, et al. Among authors: schaller a. Klin Monbl Augenheilkd. 2023 Apr;240(4):549-552. doi: 10.1055/a-2055-1051. Epub 2023 Apr 25. Klin Monbl Augenheilkd. 2023. PMID: 37164435 English. No abstract available.

3

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Grassi M, Laubscher B, Pandey AV, Tschumi S, Graber F, Schaller A, Janner M, Aeberli D, Hewer E, Nuoffer JM, Gautschi M. Grassi M, et al. Among authors: schaller a. Mol Syndromol. 2023 Aug;14(4):347-361. doi: 10.1159/000529306. Epub 2023 Apr 12. Mol Syndromol. 2023. PMID: 37766831 Free PMC article.

4

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Ramosaj A, Singhal P, Schaller A, Laemmle A. Ramosaj A, et al. Among authors: schaller a. Mol Genet Metab Rep. 2023 Sep 6;37:101007. doi: 10.1016/j.ymgmr.2023.101007. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053928 Free PMC article.

5

Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by ¹ H HR-MAS NMR.

Meyer C, Hertig D, Arnold J, Urzi C, Kurth S, Mayr JA, Schaller A, Vermathen P, Nuoffer JM. Meyer C, et al. Among authors: schaller a. J Inherit Metab Dis. 2024 Mar;47(2):270-279. doi: 10.1002/jimd.12696. Epub 2023 Dec 12. J Inherit Metab Dis. 2024. PMID: 38084664 Free article.

6

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG. Anderegg MA, et al. Among authors: schaller a. Nephrol Dial Transplant. 2024 Mar 27:gfae074. doi: 10.1093/ndt/gfae074. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38544324 Free article.

7

Physical activity interventions in workplace health promotion: objectives, related outcomes, and consideration of the setting-a scoping review of reviews.

Schaller A, Stassen G, Baulig L, Lange M. Schaller A, et al. Front Public Health. 2024 Feb 9;12:1353119. doi: 10.3389/fpubh.2024.1353119. eCollection 2024. Front Public Health. 2024. PMID: 38406496 Free PMC article.

8

Managing Fatigue: Experiences From a 6-week Course for Adults With Cerebral Palsy.

Nilsson E, Hedberg Dubuc S, Ghafouri N, Schaller AS. Nilsson E, et al. Among authors: schaller as. Arch Rehabil Res Clin Transl. 2023 Oct 2;5(4):100300. doi: 10.1016/j.arrct.2023.100300. eCollection 2023 Dec. Arch Rehabil Res Clin Transl. 2023. PMID: 38163030 Free PMC article.

9

The tomato P69 subtilase family is involved in resistance to bacterial wilt.

Zhang W, Planas-Marquès M, Mazier M, Šimkovicová M, Rocafort M, Mantz M, Huesgen PF, Takken FLW, Stintzi A, Schaller A, Coll NS, Valls M. Zhang W, et al. Among authors: schaller a. Plant J. 2024 Apr;118(2):388-404. doi: 10.1111/tpj.16613. Epub 2023 Dec 27. Plant J. 2024. PMID: 38150324

10

[Psychedelic-assisted psychotherapy in palliative medicine].

Schaller A, Bourquin G, Amorim Araujo I, Ljuslin M. Schaller A, et al. Rev Med Suisse. 2023 Dec 20;19(855):2395-2398. doi: 10.53738/REVMED.2023.19.855.2395. Rev Med Suisse. 2023. PMID: 38117108 French.

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