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Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Genes (Basel). 2021 Feb 25;12(3):330. doi: 10.3390/genes12030330.
Genes (Basel). 2021.
PMID: 33668843
Free PMC article.
CRB1-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Grudzinska Pechhacker MK, Di Scipio M, Vig A, Tumber A, Roslin N, Tavares E, Vincent A, Hèon E.
Grudzinska Pechhacker MK, et al.
Ophthalmic Genet. 2020 Oct;41(5):457-464. doi: 10.1080/13816810.2020.1790013. Epub 2020 Jul 20.
Ophthalmic Genet. 2020.
PMID: 32689861
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FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.
Grudzinska Pechhacker MK, Yoon G, Hazrati LN, Maynes J, MacDonald H, Tavares E, Vincent A, Heon E.
Grudzinska Pechhacker MK, et al.
Eur J Med Genet. 2020 Nov;63(11):104037. doi: 10.1016/j.ejmg.2020.104037. Epub 2020 Aug 19.
Eur J Med Genet. 2020.
PMID: 32822874
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Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E.
Grudzinska Pechhacker MK, et al.
Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26.
Invest Ophthalmol Vis Sci. 2021.
PMID: 34940782
Free PMC article.
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Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.
Dvaladze A, Tavares E, Di Scipio M, Nimmo G, Grudzinska-Pechhacker MK, Paton T, Tumber A, Li S, Eileen C, Ertl-Wagner B, Mamak E, Hoffmann G, Marshall CR, Haas D, Mayatepek E, Schulze A, Heon E, Vincent A.
Dvaladze A, et al. Among authors: grudzinska pechhacker mk.
Clin Genet. 2022 Dec;102(6):524-529. doi: 10.1111/cge.14207. Epub 2022 Aug 14.
Clin Genet. 2022.
PMID: 35916082
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Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Grudzinska Pechhacker MK, Molnar A, Pekkola Pacheco N, Thonberg H, Querat L, Birkeldh U, Nordgren A, Lindstrand A.
Grudzinska Pechhacker MK, et al.
Ophthalmic Genet. 2024 Feb;45(1):95-102. doi: 10.1080/13816810.2023.2215332. Epub 2023 May 29.
Ophthalmic Genet. 2024.
PMID: 37246745
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