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Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. [electronic resource] by
- Braun, Terry A
- Mullins, Robert F
- Wagner, Alex H
- Andorf, Jeaneen L
- Johnston, Rebecca M
- Bakall, Benjamin B
- Deluca, Adam P
- Fishman, Gerald A
- Lam, Byron L
- Weleber, Richard G
- Cideciyan, Artur V
- Jacobson, Samuel G
- Sheffield, Val C
- Tucker, Budd A
- Stone, Edwin M
Producer: 20140708
In:
Human molecular genetics vol. 22
Availability: No items available.
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122.
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123.
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Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. [electronic resource] by
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- Grassmann, Felix
- Kellner, Ulrich
- Spital, Georg
- Rüther, Klaus
- Jägle, Herbert
- Hufendiek, Karsten
- Rating, Philipp
- Huchzermeyer, Cord
- Baier, Maria J
- Weber, Bernhard H F
- Stöhr, Heidi
Producer: 20170623
In:
Investigative ophthalmology & visual science vol. 58
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. [electronic resource] by
- Sangermano, Riccardo
- Garanto, Alejandro
- Khan, Mubeen
- Runhart, Esmee H
- Bauwens, Miriam
- Bax, Nathalie M
- van den Born, L Ingeborgh
- Khan, Muhammad Imran
- Cornelis, Stéphanie S
- Verheij, Joke B G M
- Pott, Jan-Willem R
- Thiadens, Alberta A H J
- Klaver, Caroline C W
- Puech, Bernard
- Meunier, Isabelle
- Naessens, Sarah
- Arno, Gavin
- Fakin, Ana
- Carss, Keren J
- Raymond, F Lucy
- Webster, Andrew R
- Dhaenens, Claire-Marie
- Stöhr, Heidi
- Grassmann, Felix
- Weber, Bernhard H F
- Hoyng, Carel B
- De Baere, Elfride
- Albert, Silvia
- Collin, Rob W J
- Cremers, Frans P M
Producer: 20200206
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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