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Patient experiences of receiving a diagnosis of hypermobile Ehlers-Danlos syndrome.
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
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.
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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.
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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S; Undiagnosed Diseases Network, Care4Rare Canada Consortium; Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Am…
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Castilla-Vallmanya L, et al. Among authors: morel swols d.
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.
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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
Free Books & Documents.
Review.
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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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