E-LIB Suche - Ergebnisse für: Sangermano, Riccardo

1

Non-syndromic Retinal Degeneration Caused by Pathogenic Var..:

, In: Retinal Degenerative Diseases XIX; Advances in Experimental Medicine and Biology,

Sangermano, Riccardo ; Galdikaité-Braziené, Egle ; Bujakowska, Kinga M. - p. 173-182 , 2023

Link: https://doi.org/10.1007/..

2

Novel RCBTB1 variants causing later-onset non-syndromic ret..:

Catomeris, Andrew J. ; Ballios, Brian G. ; Sangermano, Riccardo...
Ophthalmic Genetics. 43 (2022) 3 - p. 332-339 , 2022

Link: https://doi.org/10.1080/..

3

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, Riccardo ; Deitch, Iris ; Peter, Virginie G....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

4

In or Out? New Insights on Exon Recognition through Splice-..:

Khan, Mubeen ; S. Cornelis, Stéphanie ; Sangermano, Riccardo...
International Journal of Molecular Sciences. 21 (2020) 7 - p. 2300 , 2020

Link: https://doi.org/10.3390/..

5

Contributors:

, In: Genetics and Genomics of Eye Disease,

Abdel-Rahman, Mohamed H. ; Au, Elizabeth D. ; Brantley Jr., Milam A.... - p. xi-xiii , 2020

Link: https://doi.org/10.1016/..

6

A combined RNA-seq and whole genome sequencing approach for..:

Pierce, Eric A ; Gamm, David M ; Bujakowska, Kinga M...
Human Molecular Genetics. 29 (2020) 6 - p. 967-979 , 2020

Link: https://doi.org/10.1093/..

7

Genetic testing of various eye disorders:

, In: Genetics and Genomics of Eye Disease,

Sangermano, Riccardo ; Scott, Hilary ; Wagner, Naomi.. - p. 239-258 , 2020

Link: https://doi.org/10.1016/..

8

ABCA4-associated disease as a model for missing heritabilit..:

Bauwens, Miriam ; Garanto, Alejandro ; Sangermano, Riccardo...
Genetics in Medicine. 21 (2019) 8 - p. 1761-1771 , 2019

Link: https://doi.org/10.1038/..

9

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABC..:

Runhart, Esmee H. ; Valkenburg, Dyon ; Cornelis, Stéphanie S....
Investigative Opthalmology & Visual Science. 60 (2019) 13 - p. 4249 , 2019

Link: https://doi.org/10.1167/..

10

Deep-intronic ABCA4 variants explain missing heritability i..:

Sangermano, Riccardo ; Garanto, Alejandro ; Khan, Mubeen...
Genetics in Medicine. 21 (2019) 8 - p. 1751-1760 , 2019

Link: https://doi.org/10.1038/..

11

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and..:

Runhart, Esmee H. ; Sangermano, Riccardo ; Cornelis, Stéphanie S....
Investigative Opthalmology & Visual Science. 59 (2018) 8 - p. 3220 , 2018

Link: https://doi.org/10.1167/..

12

ABCA4 midigenes reveal the full splice spectrum of all repo..:

Sangermano, Riccardo ; Khan, Mubeen ; Cornelis, Stéphanie S....
Genome Research. 28 (2017) 1 - p. 100-110 , 2017

Link: https://doi.org/10.1101/..

13

MIB2variants altering NOTCH signalling result in left ventr..:

Piccolo, Pasquale ; Attanasio, Sergio ; Secco, Ilaria...
Human Molecular Genetics. , 2016

Link: https://doi.org/10.1093/..

14

Heterozygous Deep-Intronic Variants and Deletions inABCA4in..:

Bax, Nathalie M. ; Sangermano, Riccardo ; Roosing, Susanne...
Human Mutation. 36 (2014) 1 - p. 43-47 , 2014

Link: https://doi.org/10.1002/..

15

Novel RCBTB1 variants causing later-onset non-syndromic ret..:

Catomeris, Andrew J ; Ballios, Brian G ; Sangermano, Riccardo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9177531/. , 2022

Link: http://www.ncbi.nlm.nih...