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1 . Academic Journal
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort
저자
by
Jordi Maggi
;
Samuel Koller
;
Silke Feil
;
Ruxandra Bachmann-Gagescu
;
Christina Gerth-Kahlert
, et al.
소스
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6540 (2024)
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7 . Academic Journal
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract
저자
by
Flora Delas
;
Samuel Koller
;
Silke Feil
;
Ivanka Dacheva
;
Christina Gerth-Kahlert
, et al.
소스
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16594 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Functional and Morphological Characteristics of the Retina of Patients with Drusen-like Deposits and Systemic Lupus Erythematosus Treated with Hydroxychloroquine: A Retrospective Study
저자
by
Alice M. Kitay
;
James V. M. Hanson
;
Nasiq Hasan
;
Matthew Driban
;
Jay Chhablani
, et al.
소스
Biomedicines, Vol 11, Iss 6, p 1629 (2023)
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7 . Academic Journal
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa
저자
by
Samuel Koller
;
Tim Beltraminelli
;
Jordi Maggi
;
Agnès Wlodarczyk
;
Silke Feil
, et al.
소스
Genes, Vol 14, Iss 4, p 934 (2023)
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7 . Academic Journal
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
저자
by
Fatma Kivrak Pfiffner
;
Samuel Koller
;
Anika Ménétrey
;
Urs Graf
;
Luzy Bähr
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 13, p 7382 (2022)
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7 . Academic Journal
Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations
저자
by
Jennifer Robinson
;
Manca Tekavčič Pompe
;
Christina Gerth-Kahlert
.
소스
Journal of Ophthalmology, Vol 2021 (2021)
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5 . Academic Journal
Commentary: Outer Retinal Dysfunction on Multifocal Electroretinography May Help Differentiating Multiple Sclerosis From Neuromyelitis Optica Spectrum Disorder
저자
by
James V. M. Hanson
;
Sven Schippling
;
Christina Gerth-Kahlert
.
소스
Frontiers in Neurology, Vol 11 (2020)
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5 . Academic Journal
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
저자
by
Jordi Maggi
;
Samuel Koller
;
Luzy Bähr
;
Silke Feil
;
Fatma Kivrak Pfiffner
, et al.
소스
International Journal of Molecular Sciences, Vol 22, Iss 4, p 1508 (2021)
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7 . Academic Journal
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes
저자
by
Patricia Haug
;
Samuel Koller
;
Jordi Maggi
;
Elena Lang
;
Silke Feil
, et al.
소스
Genes, Vol 12, Iss 1, p 65 (2021)
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7 . Academic Journal
Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus
저자
by
Ting-Feng Lin
;
Christina Gerth-Kahlert
;
James V. M. Hanson
;
Dominik Straumann
;
Melody Ying-Yu Huang
.
소스
Frontiers in Neurology, Vol 9 (2018)
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