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A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome.
Diabetes Care. 2024 May 1;47(5):798-802. doi: 10.2337/dc23-1479.
Diabetes Care. 2024.
PMID: 38277397
Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive.
Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, Boschann F.
Vogt G, et al. Among authors: schwartzmann s.
J Med Genet. 2022 Jul;59(7):662-668. doi: 10.1136/jmedgenet-2021-107843. Epub 2021 Jun 18.
J Med Genet. 2022.
PMID: 34379057
Free PMC article.
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GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third.
Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA.
Sczakiel HL, et al. Among authors: schwartzmann s.
Clin Genet. 2021 Dec;100(6):758-765. doi: 10.1111/cge.14059. Epub 2021 Sep 16.
Clin Genet. 2021.
PMID: 34482537
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HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Gottschalk A, Sczakiel HL, Hülsemann W, Schwartzmann S, Abad-Perez AT, Grünhagen J, Ott CE, Spielmann M, Horn D, Mundlos S, Jamsheer A, Mensah MA.
Gottschalk A, et al. Among authors: schwartzmann s.
Genet Med. 2023 Nov;25(11):100928. doi: 10.1016/j.gim.2023.100928. Epub 2023 Jul 7.
Genet Med. 2023.
PMID: 37427568
Review.
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REEV: review, evaluate and explain variants.
Hramyka D, Sczakiel HL, Zhao MX, Stolpe O, Nieminen M, Adam R, Danyel M, Einicke L, Hägerling R, Knaus A, Mundlos S, Schwartzmann S, Seelow D, Ehmke N, Mensah MA, Boschann F, Beule D, Holtgrewe M.
Hramyka D, et al. Among authors: schwartzmann s.
Nucleic Acids Res. 2024 May 20:gkae366. doi: 10.1093/nar/gkae366. Online ahead of print.
Nucleic Acids Res. 2024.
PMID: 38769069
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RNA analysis and computer-aided facial phenotyping help to classify a novel TRIO splice site variant.
Schwartzmann S, Zhao M, Sczakiel HL, Hildebrand G, Ehmke N, Horn D, Mensah MA, Boschann F.
Schwartzmann S, et al.
Am J Med Genet A. 2024 Mar 22:e63599. doi: 10.1002/ajmg.a.63599. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38517182
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Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly.
Horn D, Fernández-Núñez E, Gomez-Carmona R, Rivera-Barahona A, Nevado J, Schwartzmann S, Ehmke N, Lapunzina P, Otaify GA, Temtamy S, Aglan M, Boschann F, Ruiz-Perez VL.
Horn D, et al. Among authors: schwartzmann s.
Genet Med. 2021 Apr;23(4):679-688. doi: 10.1038/s41436-020-01052-2. Epub 2021 Jan 13.
Genet Med. 2021.
PMID: 33442026
Free article.
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Pulmonary malakoplakia diagnosed by fine needle aspiration. A case report.
Lambert C, Gansler T, Mansour KA, Schwartzmann SW, Duffell GM, Gal AA.
Lambert C, et al. Among authors: schwartzmann sw.
Acta Cytol. 1997 Nov-Dec;41(6):1833-8. doi: 10.1159/000333197.
Acta Cytol. 1997.
PMID: 9390153
Review.
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