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List of works by Altaf A Kondkar

A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles

scientific article

A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia

scientific article

Advanced techniques in molecular genetics and its implications on genetic testing and screening in the Arabian Peninsula

scientific article published on October 2013

Analysis of Cyclin-Dependent Kinase Inhibitor-2B rs1063192 Polymorphism in Saudi Patients with Primary Open-Angle Glaucoma

scientific article published on 19 August 2016

Analysis of Polymorphism rs1900004 in Atonal bHLH Transcription Factor 7 in Saudi Patients with Primary Open Angle Glaucoma

scientific article published on 12 September 2016

Analysis of Toll-Like Receptor 2 Polymorphism (rs5743704) in Saudi Patients with Primary Open-Angle Glaucoma

scientific article published on 11 February 2016

Analysis of catalase SNP rs1001179 in Saudi patients with primary open angle glaucoma

scientific article published on 22 April 2013

Analysis of sequence alterations in patients with primary open-angle glaucoma of Saudi origin

Analysis of toll-like receptor rs4986790 polymorphism in Saudi patients with primary open angle glaucoma

scientific article published on 11 April 2016

Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin

scientific article published on 08 July 2020

Association of Mn-SOD mutation (c.47T > C) with various POAG clinical indices.

scientific article

Association of endothelial nitric oxide synthase (NOS3) gene polymorphisms with primary open-angle glaucoma in a Saudi cohort

scientific article published on 08 January 2020

Association of increased levels of plasma tumor necrosis factor alpha with primary open-angle glaucoma.

scientific article published on 12 April 2018

Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients

scientific article published on 01 May 2014

Association of total antioxidants level with glaucoma type and severity

scientific article published on June 2015

Attitudes of Saudi parents with a deaf child towards prenatal diagnosis and termination of pregnancy

scientific article

CCDD Phenotype Associated with a Small Chromosome 2 Deletion

scientific article published on 29 January 2014

Chromosome 6 microdeletion in a patient with syndromic congenital cranial dysinnervation disorder

scientific article published on January 2016

Co-existence of m.10663T>C Mutation with Haplogroup L3f1b Background in a Patient with LHON

scientific article published on 11 January 2016

Decreased total antioxidants in patients with primary open angle glaucoma

scientific article published in September 2013

Decreased total antioxidants status in the plasma of patients with pseudoexfoliation glaucoma

scientific article published on 25 October 2011

Duane Retraction Syndrome Associated with a Small X Chromosome Deletion

scientific article published on 25 January 2016

Duane retraction syndrome in a patient with Duchenne muscular dystrophy

scientific article published on 5 February 2016

Elevated Plasma Level of 8-Hydroxy-2'-deoxyguanosine Is Associated with Primary Open-Angle Glaucoma

scientific article published on 25 April 2020

Elevated levels of plasma tumor necrosis factor alpha in patients with pseudoexfoliation glaucoma

scientific article published on 17 January 2018

Genetic variant rs613872 in transcription factor 4 (TCF4) is not associated with primary open-angle glaucoma

scientific article published on 30 April 2020

Genetics of keratoconus: where do we stand?

scientific article

Genomic analysis of a child with Down syndrome-related congenital cataract

scientific article published in July 2013

Genomic analysis of a girl with incontinentia pigmenti but without NEMO mutation.

scientific article

Increased Plasma Levels of 8-Hydroxy-2'-deoxyguanosine (8-OHdG) in Patients with Pseudoexfoliation Glaucoma

scientific article published on 01 July 2019

Keratoconus is associated with increased copy number of mitochondrial DNA.

scientific article

Lack of Association Between Polymorphism rs4986791 in TLR4 and Primary Open-Angle Glaucoma in a Saudi Cohort

scientific article published on 15 August 2016

Lack of Association between Variant rs7916697 in and Primary Open Angle Glaucoma in a Saudi Cohort

scientific article published on 01 November 2018

Lack of association between polymorphism rs540782 and primary open angle glaucoma in Saudi patients

scientific article published on 02 February 2017

Lack of association of SNP rs4236601 near CAV1 and CAV2 with POAG in a Saudi cohort

scientific article

Microdeletions involving chromosomes 12 and 22 associated with syndromic Duane retraction syndrome

scientific article published on 27 May 2014

Molecular Karyotyping of a Dysmorphic Girl from Saudi Arabia with CYP1B1-negative Primary Congenital Glaucoma.

scientific article

Molecular diagnosis of cystic fibrosis in Indian patients--a preliminary report

scientific article published on April 1, 2003

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

scientific article published on 3 September 2013

Ophthalmologic observations in a patient with partial mosaic trisomy 8.

scientific article

Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder

scientific article published on 6 September 2012

Partial duplication of chromosome 19 associated with syndromic duane retraction syndrome

scientific article published on 19 August 2013

Platelet polymorphisms: Frequency distribution and association with coronary artery disease in an Indian population ⬇️

scientific article published on October 29, 2010

Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort

article

Polymorphism rs10483727 in the SIX1/SIX6 Gene Locus Is a Risk Factor for Primary Open Angle Glaucoma in a Saudi Cohort

scientific article published on 30 November 2017

Polymorphism rs11656696 in GAS7 Is Not Associated with Primary Open Angle Glaucoma in a Saudi Cohort

scientific article published on 12 October 2017

Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort

scientific article published on 29 November 2017

Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort

scientific article

Polymorphism rs7555523 in transmembrane and coiled-coil domain 1 (TMCO1) is not a risk factor for primary open angle glaucoma in a Saudi cohort

scientific article published on 29 September 2016

Polymorphism rs7961953 in TMTC2 gene is not associated with primary open-angle glaucoma in a Saudi cohort

scientific article published on 07 February 2019

Polymorphisms rs693421 and rs2499601 at locus 1q43 and their haplotypes are not associated with primary open-angle glaucoma: a case-control study

scientific article published on 23 July 2019

Resveratrol and Ophthalmic Diseases

scientific article

Sirtuins Expression and Their Role in Retinal Diseases

scientific article published on 19 January 2017

The genetics of nonsyndromic bilateral Duane retraction syndrome

scientific article published on 19 September 2016

Transfection of human platelets with short interfering RNA ⬇️

scientific article published on June 1, 2011

Xq26.3 microdeletion in a male with Wildervanck Syndrome

scientific article

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