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Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.
JAMA Ophthalmol. 2021 Jul 1;139(7):691-700. doi: 10.1001/jamaophthalmol.2021.0385.
JAMA Ophthalmol. 2021.
PMID: 34014271
Free PMC article.
DPF2-related Coffin-Siris syndrome type 7 in two generations.
Kolokotronis K, Suter AA, Ivanovski I, Frey T, Bahr A, Rauch A, Steindl K.
Kolokotronis K, et al. Among authors: suter aa.
Eur J Med Genet. 2024 Apr 30;69:104945. doi: 10.1016/j.ejmg.2024.104945. Online ahead of print.
Eur J Med Genet. 2024.
PMID: 38697389
Free article.
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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, Kini U, Lapunzina P, Miny P, Sommerlund M, Suri M, Vaeth S, Vasudevan P, Gallati S.
Suter AA, et al.
Mol Genet Genomic Med. 2016 Feb 24;4(3):359-66. doi: 10.1002/mgg3.209. eCollection 2016 May.
Mol Genet Genomic Med. 2016.
PMID: 27247962
Free PMC article.
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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N.
Suter AA, et al.
Am J Med Genet A. 2020 Sep;182(9):2068-2076. doi: 10.1002/ajmg.a.61735. Epub 2020 Jun 27.
Am J Med Genet A. 2020.
PMID: 32592542
Free article.
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