about
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucomaMutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsIdentification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital GlaucomaAssociation of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.The molecular basis of retinal dystrophies in pakistan.Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.Variants in the PRPF8 Gene are Associated with Glaucoma.Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families.IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosaMolecular and clinical analysis of 27 German patients with Leber congenital amaurosisTargeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian familiesIdentification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucomaLONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONSGenetic Spectrum of ABCA4-Associated Retinal Degeneration in PolandChromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 MutationsA nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
P50
Q24263464-C5C78270-2015-4A38-B1A7-E8792772AF04Q28975783-1A64D0BB-3BFF-4985-9D29-E5E4FA47FB19Q30377934-805C130B-5F8A-48C2-971B-0ED96EC69640Q34041829-9331AE34-F782-418A-84F1-CCDB8AE9D94EQ36087162-66D5FA4F-840F-4C85-B66B-92189F321311Q36431414-DCE681F3-1CCA-4DD6-9797-01751DF7769CQ37314640-E98498E9-4A3F-4388-999A-A35031077D4EQ37689840-4845C575-0DD9-475C-9F0E-510CD84B2FE9Q38883998-5E2B5657-5F44-4FA5-BEAF-6E7C544AAB99Q47214008-968EC081-6A31-4DC7-A651-AB84AFDE5874Q47380003-DD6E1867-5749-4E59-A668-6ADC1C2B77C9Q48127853-EAAFB582-DBA6-4BB4-A05D-62482F1EB97CQ48328499-CC1680DF-8730-4DCC-942A-4A1A20AFB0E7Q52693054-154F04A6-0195-4F48-808F-5F574D63A895Q53064427-1C9A293C-F014-4726-8B51-7F1A07A5D7D3Q53091096-8BE839AD-1F17-4B21-AA4C-94F41F4C23E2Q57646238-C9C84A2B-C2B7-4043-A72B-819D5AE5F83FQ60941519-AFDC454D-80C4-41F0-B54C-EC7ED3310C85Q64246939-891C3974-2072-4FAD-B7F6-FA05862E5C04Q87499322-B8FE8DCD-F03B-458A-BB36-356A6EEA3544Q89593949-C151E48A-13AB-4D37-AF37-70C745C5349BQ91445055-3247D97E-BBF1-485A-A368-EE9486D83353Q92267387-D9926507-8349-48F1-B592-DEEE1DEE97F4Q92917866-E0EFA191-F96E-45EA-AC73-68CEE7389EACQ93116119-CA0E66E8-676E-4565-9B51-99C6057A0F13
P50
description
researcher (ORCID 0000-0003-0276-5480)
@en
wetenschapper
@nl
name
Muhammad I Khan
@en
Muhammad I Khan
@nl
type
label
Muhammad I Khan
@en
Muhammad I Khan
@nl
prefLabel
Muhammad I Khan
@en
Muhammad I Khan
@nl
P108
P31
P496
0000-0003-0276-5480