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Ullah,\ A.*\ ; Umair,\ M.\ ; Yousaf,\ M.*\ ; Khan,\ S.A.*\ ; Nazim-Ud-Din,\ M.*\ ; Shah,\ K.*\ ; Ahmad,\ F.*\ ; Azeem,\ Z.*\ ; Ali,\ G.*\ ; Alhaddad,\ B.\ ; Rafique,\ A.*\ ; Jan,\ A.*\ ; Haack,\ T.B.\ ; Strom,\ T.M.\ ; Meitinger,\ T.\ ; Ghous,\ T.*\ ; Ahmad,\ W.*
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Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
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Mol. Vis. 23, 482-494 (2017)
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Puk,\ O.\ ; Yan,\ X.\ ; Sabrautzki,\ S.\ ; Fuchs,\ H.\ ; Gailus-Durner,\ V.\ ; Hrabě de Angelis,\ M.\ ; Graw,\ J.
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Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.
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Mol. Vis. 19, 877-884 (2013)
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Veiga-Crespo,\ P.*\ ; del Río,\ P.\ ; Blindert,\ M.\ ; Ueffing,\ M.*\ ; Hauck,\ S.M.\ ; Vecino,\ E.*
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Phenotypic map of porcine retinal ganglion cells.
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Mol. Vis. 19, 904-916 (2013)
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Roshan,\ M.*\ ; Kabekkodu,\ S.P.*\ ; Vijaya,\ P.H.*\ ; Manjunath,\ K.*\ ; Graw,\ J.\ ; Gopinath,\ P.M.*\ ; Satyamoorthy,\ K.*
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Analysis of mitochondrial DNA variations in Indian patients with congenital cataract.
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Mol. Vis. 18, 181-193 (2012)
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Steinhart,\ M.R.*\ ; Cone,\ F.E.*\ ; Nguyen,\ C.*\ ; Nguyen,\ T.D.*\ ; Pease,\ M.E.*\ ; Puk,\ O.\ ; Graw,\ J.\ ; Oglesby,\ E.N.*\ ; Quigley,\ H.A.*
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Mice with an induced mutation in collagen 8A2 develop larger eyes and are resistant to retinal ganglion cell damage in an experimental glaucoma model.
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Mol. Vis. 18, 1093-1106 (2012)
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Puk,\ O.\ ; Ahmad,\ N.\ ; Wagner,\ S.\ ; Hrabě de Angelis,\ M.\ ; Graw,\ J.
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Microphakia and congenital cataract formation in a novel Lim\2C51R\ mutant mouse.
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Mol. Vis. 17, 1164-1171 (2011)
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Siemiatkowska,\ A.M.*\ ; Arimadyo,\ K.*\ ; Moruz,\ L.M.*\ ; Astuti,\ G.D.*\ ; de Castro-Miró,\ M.*\ ; Zonneveld,\ M.N.*\ ; Strom,\ T.M.\ ; de Wijs,\ I.J.*\ ; Hoefsloot,\ L.H.*\ ; Faradz,\ S.M.*\ ; Cremers,\ F.P.*\ ; den Hollander,\ A.I.*\ ; Collin,\ R.W.*
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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
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Mol. Vis. 17, 3013-3024 (2011)
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Azam,\ M.*\ ; Collin,\ R.W.J.*\ ; Shah,\ S.T.A.*\ ; Shah,\ A.A.*\ ; Khan,\ M.I.*\ ; Hussain,\ A.*\ ; Sadeque,\ A.*\ ; Strom,\ T.M.\ ; Thiadens,\ A.A.H.J.*\ ; Roosing,\ S.*\ ; den Hollander,\ A.I.*\ ; Cremers,\ F.P.M.*\ ; Qamar,\ R.*
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Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
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Mol. Vis. 16, 774-781 (2010)
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Roshan,\ M.*\ ; Vijaya,\ P.H.*\ ; Lavanya,\ G.R.*\ ; Shama,\ P.K.*\ ; Santhiya,\ S.T.*\ ; Graw,\ J.\ ; Gopinath,\ P.M.*\ ; Satyamoorthy,\ K.*
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A novel human \CRYGD\ mutation in a juvenile autosomal dominant cataract.
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Mol. Vis. 16, 887-896 (2010)
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Santhiya,\ S.T.*\ ; Kumar,\ G.S.*\ ; Sudhakar,\ P.*\ ; Gupta,\ N.*\ ; Klopp,\ N.\ ; Illig,\ T.\ ; Söker,\ T.\ ; Groth,\ M.*\ ; Platzer,\ M.*\ ; Gopinath,\ P.M.*\ ; Graw,\ J.
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Molecular analysis of cataract families in India: New mutations in the \CRYBB2\ and \GJA3\ genes and rare polymorphisms.
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Mol. Vis. 16, 1837-1847 (2010)
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Graw,\ J.\ ; Schmidt,\ W.*\ ; Minogue,\ P.J.*\ ; Rodriguez,\ J.*\ ; Tong,\ J.J.*\ ; Klopp,\ N.\ ; Illig,\ T.\ ; Ebihara,\ L.*\ ; Berthoud,\ V.M.*\ ; Beyer,\ E.C.*
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The \GJA8\ allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
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Mol. Vis. 15, 1881-1885 (2009)
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Schmidt,\ W.*\ ; Klopp,\ N.\ ; Illig,\ T.\ ; Graw,\ J.
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A novel GJA8 mutation causing a recessive triangular cataract.
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Mol. Vis. 14, 851-856 (2008)
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Pauli,\ S.*\ ; Söker,\ T.\ ; Klopp,\ N.\ ; Illig,\ T.\ ; Engel,\ W.*\ ; Graw,\ J.
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Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene.
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Mol. Vis. 13, 962-967 (2007)
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Santhiya,\ S.T.*\ ; Söker,\ T.\ ; Klopp,\ N.\ ; Illig,\ T.\ ; Prakash,\ M.V.S.*\ ; Selvaraj,\ B.*\ ; Gopinath,\ P.M.*\ ; Graw,\ J.
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Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family.
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Mol. Vis. 12, 768-773 (2006)
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Jablonski,\ M.M.*\ ; Dalke,\ C.\ ; Wang,\ X.F.*\ ; Lu,\ L.*\ ; Manly,\ K.F.*\ ; Pretsch,\ W.\ ; Favor,\ J.\ ; Pardue,\ M.T.*\ ; Rinchik,\ E.M.*\ ; Williams,\ R.W.*\ ; Goldowitz,\ D.*
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An ENU-induced mutation in Rs1h causes disruption of retinal structure and function.
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Mol. Vis. 11, 569-581 (2005)
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