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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genet Med. 2020 Jul;22(7):1215-1226. doi: 10.1038/s41436-020-0792-7. Epub 2020 May 7.
Genet Med. 2020.
PMID: 32376980
Free PMC article.
KBG syndrome.
Morel Swols D, Foster J 2nd, Tekin M.
Morel Swols D, et al.
Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8.
Orphanet J Rare Dis. 2017.
PMID: 29258554
Free PMC article.
Review.
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Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
Wang YT, Jahani S, Morel-Swols D, Kapely A, Rosen A, Forghani I.
Wang YT, et al. Among authors: morel swols d.
Am J Med Genet A. 2024 Mar 28:e63613. doi: 10.1002/ajmg.a.63613. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38545882
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Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L, Gonzalez J, Morel Swols D, Duman D, Saridogan T, Ramzan M, Zafeer MF, Liu XZ, Eshraghi AA, Hoffer ME, Angeli SI, Bademci G, Blanton S, Smith C, Telischi FF, Tekin M.
Peart L, et al. Among authors: morel swols d.
Hum Genomics. 2023 Nov 24;17(1):103. doi: 10.1186/s40246-023-00556-7.
Hum Genomics. 2023.
PMID: 37996878
Free PMC article.
Item in Clipboard
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.
Borja N, Zafeer MF, Rodriguez JA, Morel Swols D, Thorson W, Bademci G, Tekin M.
Borja N, et al. Among authors: morel swols d.
Am J Med Genet A. 2023 Apr;191(4):1044-1049. doi: 10.1002/ajmg.a.63119. Epub 2023 Jan 11.
Am J Med Genet A. 2023.
PMID: 36628575
Review.
Item in Clipboard
KBG Syndrome.
Morel Swols D, Tekin M.
Morel Swols D, et al.
2018 Mar 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2018 Mar 22. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 29565525
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