R. Leibu

发表

Visual evoked cortical potential can be used to differentiate between uncorrected refractive error and macular disorders

I. Perlman, E. Segev, Nael Mazawi, 2004, Documenta Ophthalmologica.

Haptoglobin phenotype and diabetic nephropathy

I. Hochberg, K. Skorecki, A. Levy, 2001, Diabetologia.

Verifying complaints of difficulties in night vision using electroretinography and dark adaptation tests

I. Perlman, A. Itzhaki, E. Mezer, 2019, Documenta Ophthalmologica.

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.

M. Indelman, R. Bergman, G. Richard, 2002, The Journal of investigative dermatology.

Haptoglobin genotype as a risk factor for diabetic retinopathy.

I. Hochberg, A. Levy, F. Nakhoul, 2000, JAMA.

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

I. Perlman, T. Ben‐Yosef, Leah Rizel, 2015, Molecular vision.

Evaluation of intravitreal kenalog toxicity in humans.

I. Perlman, N. Shoham, R. Leibu, 2007, Ophthalmology.

Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings

M. Indelman, R. Bergman, E. Sprecher, 2005, The British journal of dermatology.

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

M. Indelman, R. Bergman, G. Richard, 2003, The Journal of investigative dermatology.

Cone-rod dysfunction in patients with unexplained reduction in visual acuity

I. Perlman, R. Leibu, Y. Lang, 2007, Documenta Ophthalmologica.

Effect of defocusing and of distracted attention upon recordings of the visual evoked potential

Ido Perlman, Rina Leibu, I. Perlman, 2004, Documenta Ophthalmologica.

Induction of retinopathy by fibrillar oxalate assemblies

I. Perlman, D. Magen, L. Adler-Abramovich, 2020, Communications Chemistry.

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability

H. Hakonarson, C. Ayuso, M. López-Molina, 2017, Journal of Medical Genetics.

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

N. Shomron, A. D. den Hollander, D. Sharon, 2015, Human molecular genetics.

Human Mutation

I. Perlman, N. Shomron, D. Sharon, 2019 .

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

J. Gécz, G. Ast, F. Glaser, 2022, American journal of human genetics.

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

I. Chowers, N. Shomron, D. Sharon, 2019, Molecular vision.

Reduced Electroretinogram Responses in Morphologically Normal Retina in Patients with Primary Hyperoxaluria Type 1

I. Perlman, D. Magen, S. Zayit-Soudry, 2023, Ophthalmology science.

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy

M. Indelman, R. Bergman, E. Avitan-Hersh, 2012, International journal of dermatology.

Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function.

I. Perlman, E. Sprecher, R. Leibu, 2006, Ophthalmology.

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

I. Perlman, R. Bergman, G. Richard, 2001, Nature Genetics.

Frequency-domain analysis of the human corneal electroretinogram

I. Perlman, R. Leibu, H. Asi, 1992 .

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

I. Perlman, N. Shomron, D. Sharon, 2020, Human mutation.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

I. Chowers, D. Sharon, B. Wissinger, 2022, Molecular vision.

Hypoxic induction of vascular endothelial growth factor is markedly decreased in diabetic individuals who do not develop retinopathy.

K. Skorecki, A. Levy, N. Levy, 2000, Diabetes care.

Development of laser-induced retinal damage in the rabbit

Noemi Bitterman, Esther Zemel, Benjamin Miller, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

Hereditary microphthalmia with colobomatous cyst.

R. Gershoni-baruch, D. Goldscher, Y. Porges, 1992, American journal of ophthalmology.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry

D. Sharon, F. Cremers, Y. Rotenstreich, 2023, Molecular vision.

Light Modulates Ocular Complications in an Albino Rat Model of Type 1 Diabetes Mellitus

I. Perlman, N. Shehadeh, R. Leibu, 2017, Translational vision science & technology.

A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy

M. Indelman, R. Bergman, E. Avitan-Hersh, 2012, International journal of dermatology.

Elastic Deformation of Optical Coherence Tomography Images of Diabetic Macular Edema for Deep-Learning Models Training: How Far to Go? pdf

Anath Fischer, Ronit Schneor, Daniel Bar-David, 2021, IEEE Journal of Translational Engineering in Health and Medicine.

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism

D. Sharon, M. Ross, Samer Khateb, 2024, Genes.