Molecular heterogeneity in retinitis pigmentosa. More mutations

Laser biospectroscopy and 5-ALA fluorescence navigation as a helpful tool in the meningioma resection.

Neurosurgical review·2016

Developmental abnormalities in the Nuc1 rat retina: a spontaneous mutation that affects neuronal and vascular remodeling and retinal function.

Neuroscience·2005

Choroidal infarction, anterior ischemic optic neuropathy, and central retinal artery occlusion from polyarteritis nodosa.

Retina (Philadelphia, Pa.)·2001

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

Ophthalmology·2001

Sickle cell disease presenting with extensive peri-macular arteriolar occlusions in a nine-year-old boy.

American journal of ophthalmology·2001

Traumatic hyphema in children: risk factors for complications.

Archives of ophthalmology (Chicago, Ill. : 1960)·2001

Systemic comorbidities before and after onset in Leber hereditary optic neuropathy: a descriptive study.

Ophthalmic genetics·2026

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Ophthalmic genetics·2026

Identifying causal genetic markers and cellular mechanisms in diabetic retinopathy through single-cell sc-eQTL analysis and Mendelian randomization.

Ophthalmic genetics·2026

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Ophthalmic genetics·2026

Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene.

Ophthalmic genetics·2026

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Ophthalmic genetics·2026

Identification of Two Novel HLA-A Alleles by Next-Generation Sequencing: HLA-A01:516 and HLA-A03:538.

HLA·2026

Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication.

Cell reports·2026

Genome-wide characterization of copy number variations in Nagami Mithun (Bos frontalis) using whole-genome resequencing.

Mammalian genome : official journal of the International Mammalian Genome Society·2026

Brain circadian clock neurons drive fitness advantages in Drosophila.

iScience·2026

Effects of genotype and exercise on hepatic gene expression in phenotype-selected marathon mice.

Scientific data·2026

From fathers to forebears: Benchmarking Y-chromosomal short tandem repeat haplogroup predictors for forensic paternal lineage inference.

Forensic science international. Genetics·2026

Related Experiment Videos

Molecular heterogeneity in retinitis pigmentosa. More mutations

Related Concept Videos

Laser biospectroscopy and 5-ALA fluorescence navigation as a helpful tool in the meningioma resection.

Developmental abnormalities in the Nuc1 rat retina: a spontaneous mutation that affects neuronal and vascular remodeling and retinal function.

Choroidal infarction, anterior ischemic optic neuropathy, and central retinal artery occlusion from polyarteritis nodosa.

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

Sickle cell disease presenting with extensive peri-macular arteriolar occlusions in a nine-year-old boy.

Traumatic hyphema in children: risk factors for complications.

Systemic comorbidities before and after onset in Leber hereditary optic neuropathy: a descriptive study.

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Identifying causal genetic markers and cellular mechanisms in diabetic retinopathy through single-cell sc-eQTL analysis and Mendelian randomization.

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene.

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Identification of Two Novel HLA-A Alleles by Next-Generation Sequencing: HLA-A01:516 and HLA-A03:538.

Adaptive variation in butyrylcholinesterase-influenced lipid metabolism during horse domestication.

Genome-wide characterization of copy number variations in Nagami Mithun (Bos frontalis) using whole-genome resequencing.

Brain circadian clock neurons drive fitness advantages in Drosophila.

Effects of genotype and exercise on hepatic gene expression in phenotype-selected marathon mice.

From fathers to forebears: Benchmarking Y-chromosomal short tandem repeat haplogroup predictors for forensic paternal lineage inference.

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Molecular heterogeneity in retinitis pigmentosa. More mutations

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