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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2018 | 1 |
2019 | 1 |
2020 | 2 |
2021 | 1 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
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A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
J Appl Genet. 2023 Feb;64(1):125-134. doi: 10.1007/s13353-022-00743-7. Epub 2022 Dec 31.
J Appl Genet. 2023.
PMID: 36586055
Free PMC article.
Review.
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.
Bukowska-Olech E, Sowińska-Seidler A, Łojek F, Popiel D, Walczak-Sztulpa J, Jamsheer A.
Bukowska-Olech E, et al.
J Appl Genet. 2021 Feb;62(1):107-113. doi: 10.1007/s13353-020-00591-3. Epub 2020 Oct 31.
J Appl Genet. 2021.
PMID: 33131036
Free PMC article.
Review.
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Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.
Courage C, Jackson CB, Owczarek-Lipska M, Jamsheer A, Sowińska-Seidler A, Piotrowicz M, Jakubowski L, Dallèves F, Riesch E, Neidhardt J, Lemke JR.
Courage C, et al.
Am J Med Genet A. 2019 Dec;179(12):2447-2453. doi: 10.1002/ajmg.a.61354. Epub 2019 Sep 11.
Am J Med Genet A. 2019.
PMID: 31512363
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The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Potuijt JWP, Sowinska-Seidler A, Bukowska-Olech E, Nguyen P, Jankowski A, Magielsen F, Matuszewska K, van Nieuwenhoven CA, Galjaard RH, de Klein A, Jamsheer A.
Potuijt JWP, et al.
Mol Genet Genomics. 2022 Sep;297(5):1343-1352. doi: 10.1007/s00438-022-01921-2. Epub 2022 Jul 11.
Mol Genet Genomics. 2022.
PMID: 35821352
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A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.
Bukowska-Olech E, Sowińska-Seidler A, Szczałuba K, Jamsheer A.
Bukowska-Olech E, et al.
Birth Defects Res. 2020 May 15;112(9):652-659. doi: 10.1002/bdr2.1676. Epub 2020 Apr 14.
Birth Defects Res. 2020.
PMID: 32286743
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Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.
Sowińska-Seidler A, Olech EM, Socha M, Larysz D, Jamsheer A.
Sowińska-Seidler A, et al.
J Appl Genet. 2018 Aug;59(3):281-289. doi: 10.1007/s13353-018-0447-4. Epub 2018 May 29.
J Appl Genet. 2018.
PMID: 29845577
Free PMC article.
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