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Biomedicines
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August 28, 2025
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome
Flora Delas, Jiradet Gloggnitzer, Alessandro Maspoli, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
September 17, 2017
Incidence of retinopathy of prematurity (ROP) and ROP treatment in Switzerland 2006-2015: a population-based analysis
Roland Gerull, Viviane Brauer, Dirk Bassler, et al.
Investigative Ophthalmology & Visual Science
|
July 2, 2019
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa
Christina Gerth-Kahlert, Samuel Koller, James V M Hanson, et al.
Biomedicines
|
June 28, 2023
Functional and Morphological Characteristics of the Retina of Patients with Drusen-like Deposits and Systemic Lupus Erythematosus Treated with Hydroxychloroquine: A Retrospective Study
Alice M Kitay, James V M Hanson, Nasiq Hasan, et al.
International Journal of Molecular Sciences
|
July 9, 2022
Homozygosity for a Novel <i>DOCK7</i> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, et al.
Ophthalmic Genetics
|
August 17, 2017
Unusual retinopathy in a child with severe combined immune deficiency
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, et al.
International Journal of Molecular Sciences
|
February 6, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
Jordi Maggi, Samuel Koller, Luzy Bähr, et al.
Genes
|
January 9, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes
Patricia Haug, Samuel Koller, Jordi Maggi, et al.
Pediatric Research
|
September 7, 2018
Prediction of ROP Treatment and Evaluation of Screening Criteria in VLBW Infants-a Population Based Analysis
Roland Gerull, Viviane Brauer, Dirk Bassler, et al.
Scientific Reports
|
June 30, 2016
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Amit Tiwari, Angela Bahr, Luzy Bähr, et al.
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of 9
Search research articles
Search
Showing results (61-70 of 85) with videos related to
Sort By:
Page
of 9
Biomedicines
|
August 28, 2025
Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome
Flora Delas, Jiradet Gloggnitzer, Alessandro Maspoli, et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition
|
September 17, 2017
Incidence of retinopathy of prematurity (ROP) and ROP treatment in Switzerland 2006-2015: a population-based analysis
Roland Gerull, Viviane Brauer, Dirk Bassler, et al.
Investigative Ophthalmology & Visual Science
|
July 2, 2019
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa
Christina Gerth-Kahlert, Samuel Koller, James V M Hanson, et al.
Biomedicines
|
June 28, 2023
Functional and Morphological Characteristics of the Retina of Patients with Drusen-like Deposits and Systemic Lupus Erythematosus Treated with Hydroxychloroquine: A Retrospective Study
Alice M Kitay, James V M Hanson, Nasiq Hasan, et al.
International Journal of Molecular Sciences
|
July 9, 2022
Homozygosity for a Novel <i>DOCK7</i> Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment
Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, et al.
Ophthalmic Genetics
|
August 17, 2017
Unusual retinopathy in a child with severe combined immune deficiency
Christina Gerth-Kahlert, Amit Tiwari, Mathias M Hauri-Hohl, et al.
International Journal of Molecular Sciences
|
February 6, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
Jordi Maggi, Samuel Koller, Luzy Bähr, et al.
Genes
|
January 9, 2021
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes
Patricia Haug, Samuel Koller, Jordi Maggi, et al.
Pediatric Research
|
September 7, 2018
Prediction of ROP Treatment and Evaluation of Screening Criteria in VLBW Infants-a Population Based Analysis
Roland Gerull, Viviane Brauer, Dirk Bassler, et al.
Scientific Reports
|
June 30, 2016
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Amit Tiwari, Angela Bahr, Luzy Bähr, et al.
Page
of 9