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1
المؤلفون: Paun, C.C., Pijl, B.J., Siemiatkowska, A.M., Collin, R.W.J., Cremers, F.P., Hoyng, C.B., den Hollander, A.I.
المصدر: Molecular Vision, 18, 2447-53
Molecular Vision, 18, pp. 2447-53مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], eye diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::009e95ef8f2da64233fa7f45ac16f91dTest
https://hdl.handle.net/2066/111029Test -
2
المؤلفون: Ven, J.P.H. van de, Smailhodzic, D., Boon, C.J.F., Fauser, S., Groenewoud, J.M.M., Chong, N.V., Hoyng, C.B., Klevering, B.J., Hollander, A.I. den
المصدر: Molecular Vision, 18, pp. 2271-8
Molecular Vision, 18, 2271-8مصطلحات موضوعية: genetic structures, Evaluation of complex medical interventions [NCEBP 2], Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], eye diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::881b07a612aebe7e2066ddf627a68aa5Test
https://hdl.handle.net/2066/109959Test -
3
المؤلفون: 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.
المصدر: Molecular Vision
ResearcherID
Molecular Vision, 17, pp. 3013-24
Molecular Vision, 17, 3013-24
Mol. Vis. 17, 3013-3024 (2011)مصطلحات موضوعية: Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Adolescent, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Polymorphism, Single Nucleotide, Proto-Oncogene Mas, Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, Asian People, Genes, X-Linked, Electroretinography, Humans, Genetic Testing, Lebers congenital amaurosis, Ligand-binding domain, Nuclear receptor, Missense mutations, Crystal-structure, Linkage Analyses, Acid, identification, Dystrophy, ABCR, Child, Eye Proteins, Aged, Genome, Human, Homozygote, Chromosome Mapping, Middle Aged, eye diseases, Pedigree, Indonesia, Mutation, Female, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Retinitis Pigmentosa, Research Article, Genome-Wide Association Study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::87ec7ee87e53721f35b6426bd0914ec0Test
http://europepmc.org/articles/PMC3224842Test -
4
المؤلفون: Micheal, S., Yousaf, S., Khan, M. I., Akhtar, F., Islam, F., Khan, W. A., Den Hollander, A. I., Qamar, R., Ahmed, A.
المصدر: Molecular Vision, 19, pp. 441-7
Molecular Vision, 19, 441-7
Scopus-Elsevierمصطلحات موضوعية: Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], eye diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::052da5e8802c7f713498d2c20dcf2b5dTest
https://hdl.handle.net/2066/117444Test -
5Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
المؤلفون: Yzer, S., Hollander, A.I. den, Lopez, I., Pott, J.W., de Faber, J.T., Cremers, F.P., Koenekoop, R.K., Born, L.I. van den
المصدر: Molecular Vision, 18, 412-25
Molecular Vision, 18, pp. 412-25مصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], sense organs, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c9ee1fd438650aac1dc0b7c2de623fa9Test
https://hdl.handle.net/2066/108895Test -
6
المؤلفون: Yousaf, S., Muhammad Imran Khan, Micheal, S., Akhtar, F., Ali, S. H. B., Riaz, M., Ali, M., Lall, P., Waheed, N. K., Den Hollander, A. I., Ahmed, A., Qamar, R.
المصدر: Scopus-Elsevier
Molecular Vision, 17, 1153-63
Molecular Vision, 17, pp. 1153-63
Molecular Visionمصطلحات موضوعية: Adult, Male, DNA Repair, Genotype, Genetics and epigenetic pathways of disease [NCMLS 6], Molecular Sequence Data, Sex Factors, Asian People, Gene Frequency, Risk Factors, Humans, Genetic Predisposition to Disease, Pakistan, Prospective Studies, Genetic Association Studies, Xeroderma Pigmentosum Group D Protein, Polymorphism, Genetic, Base Sequence, eye diseases, Pedigree, DNA-Binding Proteins, X-ray Repair Cross Complementing Protein 1, Case-Control Studies, Mutation, Female, Glaucoma, Angle-Closure, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Glaucoma, Open-Angle, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::8f668d7464db4311c76e6d68f41ac1fbTest
https://hdl.handle.net/2066/97524Test -
7
المؤلفون: Muhammad Imran Khan, Collin, R. W. J., Arimadyo, K., Micheal, S., Azam, M., Qureshi, N., Faradz, S. M. H., Den Hollander, A. I., Qamar, R., Cremers, F. P. M.
المصدر: Molecular Vision
Scopus-Elsevier
Molecular Vision, 16, pp. 2753-9
Molecular Vision, 16, 2753-9مصطلحات موضوعية: Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Fundus Oculi, Genetic Linkage, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], Chromosome Segregation, Electroretinography, Humans, Family, Amino Acid Sequence, Eye Proteins, Base Sequence, Sequence Homology, Amino Acid, Computational Biology, Middle Aged, Lamin Type A, eye diseases, Pedigree, Protein Structure, Tertiary, Female, Retinitis Pigmentosa, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bef63f3e516be02fc1f4297a5e060e04Test
http://europepmc.org/articles/PMC3003713Test -
8
المؤلفون: Azam, Maleeha, Collin, Rob W. J., Shah, Syed Tahir Abbas, Shah, Aftab Ali, Khan, Muhammad Imran, Hussain, Alamdar, Sadeque, Ahmed, Strom, Tim M., Thiadens, Alberta A. H. J., Susanne Roosing, Den Hollander, Anneke I., Cremers, Frans P. M., Qamar, Raheel
المصدر: Molecular Vision
Mol. Vis. 16, 774-781 (2010)
Molecular Vision, 16, pp. 774-81
Molecular Vision, 16, 774-81
Scopus-Elsevier
ResearcherIDمصطلحات موضوعية: Genetics and epigenetic pathways of disease [NCMLS 6], Fundus Oculi, Molecular Sequence Data, Mutation, Missense, Color, Cyclic Nucleotide-Gated Cation Channels, Gene Expression, Color Vision Defects, Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], Asian People, Photophobia, Retinal Rod Photoreceptor Cells, Gated cation channel, Alpha-subunit, Total colourblindness, Ion channels, Cone, GNAT2, Disorders, Electroretinography, Humans, Pakistan, Amino Acid Sequence, Frameshift Mutation, Vision, Ocular, Base Sequence, Homozygote, eye diseases, Eyeglasses, Mutation, Retinal Cone Photoreceptor Cells, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5b9ad69fd64183b75250576c3e652057Test
http://europepmc.org/articles/PMC2862243Test -
9
المؤلفون: Hogewind, B.F.T., Pennings, R.J.E., Hol, F.A., Kunst, H.P.M., Hoefsloot, E.H., Cruysberg, J.R.M., Cremers, C.W.R.J.
المصدر: Molecular Vision, 16, 26-35
Molecular Vision, 16, pp. 26-35مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Genetics and epigenetic pathways of disease [NCMLS 6], genetic structures, Evaluation of complex medical interventions [NCEBP 2], Functional Neurogenomics [DCN 2], eye diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::89c9a1e656107025f9ee1ea7602e021dTest
https://hdl.handle.net/2066/88455Test -
10
المؤلفون: Muhammad Imran Khan, Micheal, S., Rana, N., Akhtar, F., Den Hollander, A. I., Ahmed, A., Qamar, R.
المصدر: Molecular Vision
Molecular Vision, 15, 2861-7
Molecular Vision, 15, pp. 2861-7
Scopus-Elsevierمصطلحات موضوعية: Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Tumor Necrosis Factor-alpha, Glaucoma, Immunoglobulin E, Middle Aged, Exfoliation Syndrome, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Gene Frequency, Case-Control Studies, Humans, Female, Genetic Predisposition to Disease, Pakistan, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::baec26edf8e89acf463fce400c7ea8d3Test
http://europepmc.org/articles/PMC2796874Test
