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EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Am J Med Genet A. 2024 Jun;194(6):e63556. doi: 10.1002/ajmg.a.63556. Epub 2024 Feb 13.
Am J Med Genet A. 2024.
PMID: 38348595
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N.
Nashabat M, et al.
Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5.
Nat Commun. 2024.
PMID: 38413582
Free PMC article.
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.
Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF; Undiagnosed Diseases Network; Tekin M, Züchner S.
Dohrn MF, et al.
Ann Clin Transl Neurol. 2024 Apr;11(4):1075-1079. doi: 10.1002/acn3.51963. Epub 2024 Mar 19.
Ann Clin Transl Neurol. 2024.
PMID: 38504481
Free PMC article.
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