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"Catherina"
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1
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare <i>ABCA4</i> Variant in a Child with Early-Onset Stargardt Disease
by
Nuria Suárez-Herrera
,
Catherina
H. Z. Li
,
Nico Leijsten
,
Dyah W. Karjosukarso
,
Zelia Corradi
,
Femke Bukkems
,
Lonneke Duijkers
,
Frans P. M. Cremers
,
Carel B. Hoyng
,
Alejandro Garanto
,
Rob W. J. Collin
Published 2024-03-01
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Article
2
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in <i>ABHD12</i>: An Ophthalmic Perspective
by
Xuan-Thanh-An Nguyen
,
Hind Almushattat
,
Ine Strubbe
,
Michalis Georgiou
,
Catherina
H. Z. Li
,
Mary J. van Schooneveld
,
Inge Joniau
,
Elfride De Baere
,
Ralph J. Florijn
,
Arthur A. Bergen
,
Carel B. Hoyng
,
Michel Michaelides
,
Bart P. Leroy
,
Camiel J. F. Boon
Published 2021-09-01
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Article
3
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
by
Neringa Jurkute
,
Francesca Cancellieri
,
Lisa Pohl
,
Catherina
H. Z. Li
,
Robert A. Heaton
,
Janine Reurink
,
James Bellingham
,
Mathieu Quinodoz
,
Georgia Yioti
,
Maria Stefaniotou
,
Marianna Weener
,
Theresia Zuleger
,
Tobias B. Haack
,
Katarina Stingl
,
Genomics England Research Consortium
,
Carel B. Hoyng
,
Omar A. Mahroo
,
Iain Hargreaves
,
F. Lucy Raymond
,
Michel Michaelides
,
Carlo Rivolta
,
Susanne Kohl
,
Susanne Roosing
,
Andrew R. Webster
,
Gavin Arno
Published 2022-10-01
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Article
4
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
by
Rebekkah J. Hitti-Malin
,
Daan M. Panneman
,
Zelia Corradi
,
Erica G. M. Boonen
,
Galuh Astuti
,
Claire-Marie Dhaenens
,
Heidi Stöhr
,
Bernhard H. F. Weber
,
Dror Sharon
,
Eyal Banin
,
Marianthi Karali
,
Sandro Banfi
,
Tamar Ben-Yosef
,
Damjan Glavač
,
G. Jane Farrar
,
Carmen Ayuso
,
Petra Liskova
,
Lubica Dudakova
,
Marie Vajter
,
Monika Ołdak
,
Jacek P. Szaflik
,
Anna Matynia
,
Michael B. Gorin
,
Kati Kämpjärvi
,
Miriam Bauwens
,
Elfride De Baere
,
Carel B. Hoyng
,
Catherina
H. Z. Li
,
Caroline C. W. Klaver
,
Chris F. Inglehearn
,
Kaoru Fujinami
,
Carlo Rivolta
,
Rando Allikmets
,
Jana Zernant
,
Winston Lee
,
Osvaldo L. Podhajcer
,
Ana Fakin
,
Jana Sajovic
,
Alaa AlTalbishi
,
Sandra Valeina
,
Gita Taurina
,
Andrea L. Vincent
,
Lisa Roberts
,
Raj Ramesar
,
Giovanna Sartor
,
Elena Luppi
,
Susan M. Downes
,
L. Ingeborgh van den Born
,
Terri L. McLaren
,
John N. De Roach
,
Tina M. Lamey
,
Jennifer A. Thompson
,
Fred K. Chen
,
Anna M. Tracewska
,
Smaragda Kamakari
,
Juliana Maria Ferraz Sallum
,
Hanno J. Bolz
,
Hülya Kayserili
,
Susanne Roosing
,
Frans P. M. Cremers
Published 2024-03-01
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Article
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Institution
Directory Open Access Journal
4 results
4
Format
Article
4 results
4
Author
Carel B. Hoyng
4 results
4
Catherina H. Z. Li
Carlo Rivolta
2 results
2
Elfride De Baere
2 results
2
Frans P. M. Cremers
2 results
2
Michel Michaelides
2 results
2
Susanne Roosing
2 results
2
Zelia Corradi
2 results
2
Alaa AlTalbishi
1 results
1
Alejandro Garanto
1 results
1
Ana Fakin
1 results
1
Andrea L. Vincent
1 results
1
Andrew R. Webster
1 results
1
Anna M. Tracewska
1 results
1
Anna Matynia
1 results
1
Arthur A. Bergen
1 results
1
Bart P. Leroy
1 results
1
Bernhard H. F. Weber
1 results
1
Camiel J. F. Boon
1 results
1
Carmen Ayuso
1 results
1
Caroline C. W. Klaver
1 results
1
Chris F. Inglehearn
1 results
1
Claire-Marie Dhaenens
1 results
1
Daan M. Panneman
1 results
1
Damjan Glavač
1 results
1
Dror Sharon
1 results
1
Dyah W. Karjosukarso
1 results
1
Elena Luppi
1 results
1
Erica G. M. Boonen
1 results
1
Eyal Banin
1 results
1
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Language
English
4 results
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