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Overview Leadership Blog JoVE Help Center

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Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

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B P Leroy

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Investigative Ophthalmology & Visual Science|November 30, 2000

RP1 protein truncating mutations predominate at the RP1 adRP locusA Payne, E Vithana, S Khaliq, et al.

JIMD Reports|February 23, 2013

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTW Terryn, R Vanholder, D Hemelsoet, et al.

American Journal of Human Genetics|September 29, 2000

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucomaO J Lehmann, N D Ebenezer, T Jordan, et al.

Molecular Genetics and Metabolism|June 30, 2000

Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseM M Sohocki, I Perrault, B P Leroy, et al.

American Journal of Human Genetics|June 18, 2005

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.

Human Molecular Genetics|July 27, 2001

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.

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Search research articles

Showing results (31-40 of 36) with videos related to

Sort By:

Pageof 4

You have reached the last page of results.This site can display upto 36 results.

Investigative Ophthalmology & Visual Science|November 30, 2000

RP1 protein truncating mutations predominate at the RP1 adRP locusA Payne, E Vithana, S Khaliq, et al.

JIMD Reports|February 23, 2013

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTW Terryn, R Vanholder, D Hemelsoet, et al.

American Journal of Human Genetics|September 29, 2000

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucomaO J Lehmann, N D Ebenezer, T Jordan, et al.

Molecular Genetics and Metabolism|June 30, 2000

Prevalence of AIPL1 mutations in inherited retinal degenerative diseaseM M Sohocki, I Perrault, B P Leroy, et al.

American Journal of Human Genetics|June 18, 2005

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndromeD Beysen, J Raes, B P Leroy, et al.

Human Molecular Genetics|July 27, 2001

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlationE De Baere, M J Dixon, K W Small, et al.

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