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1Academic Journal
المؤلفون: Van de Sompele, S., Small, K.W., Cicekdal, M.B., Soriano, V.L., D'haene, E., Shaya, F.S., Agemy, S., Van der Snickt, T., Rey, A.D., Rosseel, T., Van Heetvelde, M., Vergult, S., Balikova, I., Bergen, A.A., Boon, CJF, De Zaeytijd, J., Inglehearn, C.F., Kousal, B., Leroy, B.P., Rivolta, C., Vaclavik, V., van den Ende, J., van Schooneveld, M.J., Gómez-Skarmeta, J.L., Tena, J.J., Martinez-Morales, J.R., Liskova, P., Vleminckx, K., De Baere, E.
المصدر: American journal of human genetics, vol. 109, no. 11, pp. 2029-2048
مصطلحات موضوعية: Adult, Animals, Humans, Pedigree, Tomography, Optical Coherence, Corneal Dystrophies, Hereditary, Retina/metabolism, Xenopus laevis/genetics, IRX1, North Carolina macular dystrophy, NCMD, PRDM13, UMI-4C, cis-regulatory elements, CREs, enhanceropathy, human retina, multi-omics, non-coding single-nucleotide variants, SNVs, whole-genome sequencing
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/36243009; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_0187457C35DF4; https://serval.unil.ch/notice/serval:BIB_0187457C35DF; https://serval.unil.ch/resource/serval:BIB_0187457C35DF.P001/REF.pdf
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2Academic Journal
المؤلفون: Sompele, S. van de, Small, K.W., Cicekdal, M.B., Soriano, V.L., D'haene, E., Shaya, F.S., Agemy, S., Snickt, T. van der, Rey, A.D., Rosseel, T., Heetvelde, M. van, Vergult, S., Balikova, I., Bergen, A.A., Boon, C.J.F., Zaeytijd, J. de, Inglehearn, C.F., Kousal, B., Leroy, B.P., Rivolta, C., Vaclavik, V., Ende, J. van den, Schooneveld, M.J. van, Gómez-Skarmeta, J.L., Tena, J.J., Martinez-Morales, J.R., Liskova, P., Vleminckx, K., Baere, E. de
المصدر: American Journal of Human Genetics
وصف الملف: application/pdf
Relation: lumc-id: 185507520; https://hdl.handle.net/1887/3753274